Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98604121C= , CM000664.2:g.98604121C= | GRCh38 |
| NC_000002.11:g.99220584C= , CM000664.1:g.99220584C= | GRCh37 |
| NC_000002.10:g.98587016C= | NCBI36 |
| NG_031918.1:g.9398G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008215.3:c.170G= MANE Select | NP_001008216.1:p.Cys57= |
| ENST00000328709.8:c.170G= MANE Select | ENSP00000330730.3:p.Cys57= |
| NM_001008215.2:c.170G= | NP_001008216.1:p.Cys57= |
| ENST00000328709.7:c.170G= | ENSP00000330730.3:p.Cys57= |
| ENST00000409997.1:c.170G= | ENSP00000386934.1:p.Cys57= |
| ENST00000466848.1:n.147G= | |
| ENST00000480666.1:n.670G= | |
| ENST00000483527.5:n.316G= |