Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280277A>T , CM000672.2:g.80280277A>T | GRCh38 |
| NC_000010.10:g.82040033A>T , CM000672.1:g.82040033A>T | GRCh37 |
| NC_000010.9:g.82030013A>T | NCBI36 |
| NG_008083.1:g.14402T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.445T>A MANE Select | ENSP00000361287.3:p.Cys149Ser | |
| ENST00000372213.7:c.445T>A | ENSP00000361287.3:p.Cys149Ser | |
| ENST00000455001.1:c.256T>A | ENSP00000414961.1:p.Cys86Ser | |
| NM_000429.2:c.445T>A | NP_000420.1:p.Cys149Ser | |
| XM_005269842.3:c.445T>A | XP_005269899.1:p.Cys149Ser | |
| XM_005269843.3:c.322T>A | XP_005269900.1:p.Cys108Ser | |
| NM_000429.3:c.445T>A MANE Select | NP_000420.1:p.Cys149Ser |