Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445686C>A , CM000663.2:g.15445686C>A | GRCh38 |
| NC_000001.10:g.15772181C>A , CM000663.1:g.15772181C>A | GRCh37 |
| NC_000001.9:g.15644768C>A | NCBI36 |
| NG_009253.1:g.12244C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.729C>A MANE Select | ENSP00000365116.4:p.Cys243Ter | |
| ENST00000375943.6:c.*183C>A | ENSP00000365110.2:n.*183C>A | |
| ENST00000375949.4:c.729C>A | ENSP00000365116.4:p.Cys243Ter | |
| ENST00000483406.1:n.493C>A | ||
| NM_007272.2:c.729C>A | NP_009203.2:p.Cys243Ter | |
| XM_011540550.1:c.583C>A | XP_011538852.1:p.Gln195Lys | |
| NM_007272.3:c.729C>A MANE Select | NP_009203.2:p.Cys243Ter |