Linked Data
dbSNP Id:
rs773304273
ExAC:
7:83021940 C / T
gnomAD v2:
7-83021940-C-T
gnomAD v4:
7-83392624-C-T
COSMIC:
COSM197234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392624C>T , CM000669.2:g.83392624C>T | GRCh38 |
| NC_000007.13:g.83021940C>T , CM000669.1:g.83021940C>T | GRCh37 |
| NC_000007.12:g.82859876C>T | NCBI36 |
| NG_021242.1:g.261540G>A | |
| NG_021242.2:g.261540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1418G>A | ENSP00000405052.1:p.Arg473Gln | |
| ENST00000642232.1:c.1598G>A | ENSP00000494064.1:p.Arg533Gln | |
| ENST00000643230.2:c.1598G>A MANE Select | ENSP00000496491.1:p.Arg533Gln | |
| ENST00000643441.1:n.1583G>A | ||
| ENST00000307792.7:c.1598G>A | ENSP00000303212.3:p.Arg533Gln | |
| ENST00000427262.5:c.1418G>A | ENSP00000405052.1:p.Arg473Gln | |
| NM_001178129.1:c.1418G>A | NP_001171600.1:p.Arg473Gln | |
| NM_012431.2:c.1598G>A | NP_036563.1:p.Arg533Gln | |
| XM_011516715.1:c.1598G>A | XP_011515017.1:p.Arg533Gln | |
| NM_012431.3:c.1598G>A MANE Select | NP_036563.1:p.Arg533Gln | |
| NM_001178129.2:c.1418G>A | NP_001171600.1:p.Arg473Gln |