Linked Data
dbSNP Id:
rs764562335
ExAC:
7:83036548 T / C
gnomAD v2:
7-83036548-T-C
gnomAD v4:
7-83407232-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407232T>C , CM000669.2:g.83407232T>C | GRCh38 |
| NC_000007.13:g.83036548T>C , CM000669.1:g.83036548T>C | GRCh37 |
| NC_000007.12:g.82874484T>C | NCBI36 |
| NG_021242.1:g.246932A>G | |
| NG_021242.2:g.246932A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.498A>G | ENSP00000405052.1:p.Lys166= | |
| ENST00000642232.1:c.678A>G | ENSP00000494064.1:p.Lys226= | |
| ENST00000643230.2:c.678A>G MANE Select | ENSP00000496491.1:p.Lys226= | |
| ENST00000643441.1:n.663A>G | ||
| ENST00000644381.1:n.241A>G | ||
| ENST00000307792.7:c.678A>G | ENSP00000303212.3:p.Lys226= | |
| ENST00000427262.5:c.498A>G | ENSP00000405052.1:p.Lys166= | |
| NM_001178129.1:c.498A>G | NP_001171600.1:p.Lys166= | |
| NM_012431.2:c.678A>G | NP_036563.1:p.Lys226= | |
| XM_011516715.1:c.678A>G | XP_011515017.1:p.Lys226= | |
| NM_012431.3:c.678A>G MANE Select | NP_036563.1:p.Lys226= | |
| NM_001178129.2:c.498A>G | NP_001171600.1:p.Lys166= |