Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367631G>A , CM000669.2:g.83367631G>A | GRCh38 |
| NC_000007.13:g.82996947G>A , CM000669.1:g.82996947G>A | GRCh37 |
| NC_000007.12:g.82834883G>A | NCBI36 |
| NG_021242.1:g.286533C>T | |
| NG_021242.2:g.286533C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012431.3:c.2283C>T MANE Select | NP_036563.1:p.Ser761= |
| ENST00000643230.2:c.2283C>T MANE Select | ENSP00000496491.1:p.Ser761= |
| NM_001178129.1:c.2103C>T | NP_001171600.1:p.Ser701= |
| NM_001178129.2:c.2103C>T | NP_001171600.1:p.Ser701= |
| NM_012431.2:c.2283C>T | NP_036563.1:p.Ser761= |
| ENST00000307792.7:c.2283C>T | ENSP00000303212.3:p.Ser761= |
| ENST00000427262.5:c.2103C>T | ENSP00000405052.1:p.Ser701= |
| ENST00000427262.6:c.2103C>T | ENSP00000405052.1:p.Ser701= |
| ENST00000643441.1:n.2268C>T |