Linked Data
ClinVar Variation Id:
2313067
ClinVar RCV Id:
RCV002892376
dbSNP Id:
rs756472175
ExAC:
3:39435988 C / T
gnomAD v2:
3-39435988-C-T
gnomAD v3:
3-39394497-C-T
gnomAD v4:
3-39394497-C-T
COSMIC:
COSM2987640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394497C>T , CM000665.2:g.39394497C>T | GRCh38 |
| NC_000003.11:g.39435988C>T , CM000665.1:g.39435988C>T | GRCh37 |
| NC_000003.10:g.39410992C>T | NCBI36 |
| NG_016931.1:g.16174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.665C>T | ENSP00000495376.1:p.Ala222Val | |
| ENST00000643672.1:c.662C>T | ENSP00000494532.1:p.Ala221Val | |
| ENST00000645280.1:c.659C>T | ENSP00000496690.1:p.Ala220Val | |
| ENST00000648579.1:c.*10C>T | ENSP00000497638.1:n.*10C>T | |
| ENST00000650617.1:c.713C>T MANE Select | ENSP00000497532.1:p.Ala238Val | |
| ENST00000273158.8:c.713C>T | ENSP00000273158.3:p.Ala238Val | |
| NM_017875.2:c.713C>T | NP_060345.2:p.Ala238Val | |
| XM_006713214.1:c.701C>T | XP_006713277.1:p.Ala234Val | |
| XM_011533869.1:c.695C>T | XP_011532171.1:p.Ala232Val | |
| XM_011533870.1:c.662C>T | XP_011532172.1:p.Ala221Val | |
| XM_011533871.1:c.533C>T | XP_011532173.1:p.Ala178Val | |
| NM_001354798.1:c.626-1901C>T | NP_001341727.1:n.626-1901C>T | |
| NM_017875.4:c.713C>T MANE Select | NP_060345.2:p.Ala238Val | |
| XM_006713214.2:c.701C>T | XP_006713277.1:p.Ala234Val | |
| XM_011533869.2:c.695C>T | XP_011532171.1:p.Ala232Val | |
| XM_024453611.1:c.659C>T | XP_024309379.1:p.Ala220Val | |
| NM_001354798.2:c.626-1901C>T | NP_001341727.1:n.626-1901C>T |