Linked Data
dbSNP Id:
rs770701467
ExAC:
7:83036512 G / A
gnomAD v2:
7-83036512-G-A
gnomAD v3:
7-83407196-G-A
gnomAD v4:
7-83407196-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407196G>A , CM000669.2:g.83407196G>A | GRCh38 |
| NC_000007.13:g.83036512G>A , CM000669.1:g.83036512G>A | GRCh37 |
| NC_000007.12:g.82874448G>A | NCBI36 |
| NG_021242.1:g.246968C>T | |
| NG_021242.2:g.246968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.534C>T | ENSP00000405052.1:p.Asp178= | |
| ENST00000642232.1:c.714C>T | ENSP00000494064.1:p.Asp238= | |
| ENST00000643230.2:c.714C>T MANE Select | ENSP00000496491.1:p.Asp238= | |
| ENST00000643441.1:n.699C>T | ||
| ENST00000644381.1:n.277C>T | ||
| ENST00000307792.7:c.714C>T | ENSP00000303212.3:p.Asp238= | |
| ENST00000427262.5:c.534C>T | ENSP00000405052.1:p.Asp178= | |
| NM_001178129.1:c.534C>T | NP_001171600.1:p.Asp178= | |
| NM_012431.2:c.714C>T | NP_036563.1:p.Asp238= | |
| XM_011516715.1:c.714C>T | XP_011515017.1:p.Asp238= | |
| NM_012431.3:c.714C>T MANE Select | NP_036563.1:p.Asp238= | |
| NM_001178129.2:c.534C>T | NP_001171600.1:p.Asp178= |