Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96332467G>A , CM000677.2:g.96332467G>A | GRCh38 |
| NC_000015.9:g.96875696G>A , CM000677.1:g.96875696G>A | GRCh37 |
| NC_000015.8:g.94676700G>A | NCBI36 |
| NG_016753.1:g.11540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.362G>A MANE Select | ENSP00000377721.3:p.Cys121Tyr | |
| ENST00000394166.7:c.362G>A | ENSP00000377721.3:p.Cys121Tyr | |
| ENST00000421109.6:c.44-1609G>A | ENSP00000401674.2:n.44-1609G>A | |
| NM_001145155.1:c.44-1609G>A | NP_001138627.1:n.44-1609G>A | |
| NM_021005.3:c.362G>A | NP_066285.1:p.Cys121Tyr | |
| NM_021005.4:c.362G>A MANE Select | NP_066285.1:p.Cys121Tyr | |
| NM_001145155.2:c.44-1609G>A | NP_001138627.1:n.44-1609G>A |