Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_012181.5
p.E56A
c.167A>C
NM_012181.5
p.A251G
c.752C>G
NM_012181.5
p.A292S
c.874G>T
NM_012181.5
p.K315N
c.945G>T
NM_012181.5
p.K315N
c.945G>C
NM_012181.5
p.S3L
c.8C>T
NM_012181.5
p.E6G
c.17A>G
NM_012181.5
p.S11F
c.32C>T
NM_012181.5
p.A12T
c.34G>A
NM_012181.5
p.L14L
c.42G>A
NM_012181.5
p.E41_E42del1
c.122_124delCCT
NM_012181.5
p.E44E
c.132G>A