Linked Data
ClinVar Variation Id:
510545
ClinVar RCV Id:
RCV000603508
dbSNP Id:
rs373463444
ExAC:
12:7187977 T / C
gnomAD v2:
12-7187977-T-C
gnomAD v3:
12-7080673-T-C
gnomAD v4:
12-7080673-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7080673T>C , CM000674.2:g.7080673T>C | GRCh38 |
| NC_000012.11:g.7187977T>C , CM000674.1:g.7187977T>C | GRCh37 |
| NC_000012.10:g.7058232T>C | NCBI36 |
| NG_062465.1:g.16166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1977A>G MANE Select | ENSP00000497341.1:p.Ala659= | |
| ENST00000649804.1:c.915A>G | ENSP00000497938.1:p.Ala305= | |
| ENST00000535233.6:c.1875A>G | ENSP00000438636.3:p.Ala625= | |
| ENST00000536053.6:c.2019A>G | ENSP00000444271.3:p.Ala673= | |
| ENST00000540394.5:n.3042A>G | ||
| ENST00000542285.5:c.1977A>G | ENSP00000438615.2:p.Ala659= | |
| ENST00000602298.2:n.2326A>G | ||
| NM_001354346.1:c.2019A>G | NP_001341275.1:p.Ala673= | |
| NM_001733.6:c.1977A>G | NP_001724.4:p.Ala659= | |
| NM_001733.7:c.1977A>G MANE Select | NP_001724.4:p.Ala659= | |
| NM_001354346.2:c.2019A>G | NP_001341275.1:p.Ala673= |