Linked Data
ClinVar Variation Id:
1334337
ClinVar RCV Id:
RCV001813851
dbSNP Id:
rs749479853
ExAC:
7:107341589 C / T
gnomAD v2:
7-107341589-C-T
gnomAD v3:
7-107701144-C-T
gnomAD v4:
7-107701144-C-T
COSMIC:
COSM3431076
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701144C>T , CM000669.2:g.107701144C>T | GRCh38 |
| NC_000007.13:g.107341589C>T , CM000669.1:g.107341589C>T | GRCh37 |
| NC_000007.12:g.107128825C>T | NCBI36 |
| NG_008489.1:g.45510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1751C>T MANE Select | ENSP00000494017.1:p.Ala584Val | |
| ENST00000644846.1:c.462C>T | ||
| ENST00000265715.7:c.1751C>T | ENSP00000265715.3:p.Ala584Val | |
| ENST00000480841.5:n.600C>T | ||
| ENST00000492030.2:n.91-683C>T | ||
| NM_000441.1:c.1751C>T | NP_000432.1:p.Ala584Val | |
| XM_005250425.1:c.1751C>T | XP_005250482.1:p.Ala584Val | |
| XM_005250425.2:c.1751C>T | XP_005250482.1:p.Ala584Val | |
| XM_017012318.1:c.1673C>T | XP_016867807.1:p.Ala558Val | |
| NM_000441.2:c.1751C>T MANE Select | NP_000432.1:p.Ala584Val |