Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83367706A>T , CM000669.2:g.83367706A>T | GRCh38 |
| NC_000007.13:g.82997022A>T , CM000669.1:g.82997022A>T | GRCh37 |
| NC_000007.12:g.82834958A>T | NCBI36 |
| NG_021242.1:g.286458T>A | |
| NG_021242.2:g.286458T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.2028T>A | ENSP00000405052.1:p.Asp676Glu | |
| ENST00000643230.2:c.2208T>A MANE Select | ENSP00000496491.1:p.Asp736Glu | |
| ENST00000643441.1:n.2193T>A | ||
| ENST00000307792.7:c.2208T>A | ENSP00000303212.3:p.Asp736Glu | |
| ENST00000427262.5:c.2028T>A | ENSP00000405052.1:p.Asp676Glu | |
| NM_001178129.1:c.2028T>A | NP_001171600.1:p.Asp676Glu | |
| NM_012431.2:c.2208T>A | NP_036563.1:p.Asp736Glu | |
| NM_012431.3:c.2208T>A MANE Select | NP_036563.1:p.Asp736Glu | |
| NM_001178129.2:c.2028T>A | NP_001171600.1:p.Asp676Glu |