COSMIC:
COSM443479 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88940149 (AFR)
Genomes Max Group AF
0.88235412 (AFR)
Exomes Max Group AF
0.89304994 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1630293G>A , CM000682.2:g.1630293G>A | GRCh38 |
| NC_000020.10:g.1610939G>A , CM000682.1:g.1610939G>A | GRCh37 |
| NC_000020.9:g.1558939G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216927.4:c.762C>T | ENSP00000216927.4:p.Ser254= | |
| ENST00000303415.7:c.1095C>T MANE Select | ENSP00000305529.3:p.Ser365= | |
| ENST00000344103.8:c.444C>T | ENSP00000342759.4:p.Ser148= | |
| ENST00000381580.5:c.996C>T | ENSP00000370992.1:p.Ser332= | |
| ENST00000381583.6:c.762C>T | ENSP00000370995.2:p.Ser254= | |
| ENST00000478145.6:n.156C>T | ||
| ENST00000497407.2:n.244C>T | ||
| NM_001039508.1:c.762C>T | NP_001034597.1:p.Ser254= | |
| NM_018556.3:c.1095C>T | NP_061026.2:p.Ser365= | |
| NM_080816.2:c.444C>T | NP_543006.2:p.Ser148= | |
| XM_005260749.2:c.777C>T | XP_005260806.1:p.Ser259= | |
| XM_011529286.1:c.996C>T | XP_011527588.1:p.Ser332= | |
| XM_005260749.4:c.777C>T | XP_005260806.1:p.Ser259= | |
| XM_011529286.2:c.996C>T | XP_011527588.1:p.Ser332= | |
| NM_018556.4:c.1095C>T MANE Select | NP_061026.2:p.Ser365= | |
| NM_080816.3:c.444C>T | NP_543006.2:p.Ser148= | |
| NM_001039508.2:c.762C>T | NP_001034597.1:p.Ser254= |