Linked Data
ClinVar Variation Id:
2375130
ClinVar RCV Id:
RCV004215280
dbSNP Id:
rs140921588
ExAC:
3:58639419 G / A
gnomAD v2:
3-58639419-G-A
gnomAD v3:
3-58653692-G-A
gnomAD v4:
3-58653692-G-A
COSMIC:
COSM1424987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58653692G>A , CM000665.2:g.58653692G>A | GRCh38 |
| NC_000003.11:g.58639419G>A , CM000665.1:g.58639419G>A | GRCh37 |
| NC_000003.10:g.58614459G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358781.7:c.103C>T MANE Select | ENSP00000351632.2:p.Arg35Cys | |
| ENST00000358781.6:c.103C>T | ENSP00000351632.2:p.Arg35Cys | |
| ENST00000482623.5:c.13+1859C>T | ENSP00000418414.1:n.13+1859C>T | |
| ENST00000483787.5:c.103C>T | ENSP00000417099.1:p.Arg35Cys | |
| ENST00000489857.5:c.13+1859C>T | ENSP00000417453.1:n.13+1859C>T | |
| ENST00000498347.1:c.103C>T | ENSP00000418982.1:p.Arg35Cys | |
| NM_138805.2:c.103C>T | NP_620160.1:p.Arg35Cys | |
| XM_005264862.3:c.103C>T | XP_005264919.1:p.Arg35Cys | |
| XM_005264863.3:c.103C>T | XP_005264920.1:p.Arg35Cys | |
| XM_005264864.3:c.103C>T | XP_005264921.1:p.Arg35Cys | |
| XM_006712965.2:c.103C>T | XP_006713028.1:p.Arg35Cys | |
| XM_006712967.2:c.13+1859C>T | XP_006713030.1:n.13+1859C>T | |
| XM_011533348.1:c.121C>T | XP_011531650.1:p.Arg41Cys | |
| XM_011533349.1:c.121C>T | XP_011531651.1:p.Arg41Cys | |
| XM_011533350.1:c.121C>T | XP_011531652.1:p.Arg41Cys | |
| XM_011533351.1:c.103C>T | XP_011531653.1:p.Arg35Cys | |
| XM_011533352.1:c.13+1859C>T | XP_011531654.1:n.13+1859C>T | |
| XM_011533353.1:c.13+1859C>T | XP_011531655.1:n.13+1859C>T | |
| XM_011533354.1:c.13+1859C>T | XP_011531656.1:n.13+1859C>T | |
| XM_005264862.4:c.103C>T | XP_005264919.1:p.Arg35Cys | |
| XM_005264863.4:c.103C>T | XP_005264920.1:p.Arg35Cys | |
| XM_005264864.4:c.103C>T | XP_005264921.1:p.Arg35Cys | |
| XM_006712965.3:c.103C>T | XP_006713028.1:p.Arg35Cys | |
| XM_006712967.3:c.13+1859C>T | XP_006713030.1:n.13+1859C>T | |
| XM_011533348.2:c.121C>T | XP_011531650.1:p.Arg41Cys | |
| XM_011533349.3:c.121C>T | XP_011531651.1:p.Arg41Cys | |
| XM_011533350.2:c.121C>T | XP_011531652.1:p.Arg41Cys | |
| XM_011533351.2:c.103C>T | XP_011531653.1:p.Arg35Cys | |
| XM_011533352.2:c.13+1859C>T | XP_011531654.1:n.13+1859C>T | |
| XM_011533353.2:c.13+1859C>T | XP_011531655.1:n.13+1859C>T | |
| XM_011533354.2:c.13+1859C>T | XP_011531656.1:n.13+1859C>T | |
| NM_138805.3:c.103C>T MANE Select | NP_620160.1:p.Arg35Cys |