Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532280G>T , CM000665.2:g.129532280G>T | GRCh38 |
| NC_000003.11:g.129251123G>T , CM000665.1:g.129251123G>T | GRCh37 |
| NC_000003.10:g.130733813G>T | NCBI36 |
| NG_009115.1:g.8642G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.560G>T MANE Select | NP_000530.1:p.Cys187Phe |
| ENST00000296271.4:c.560G>T MANE Select | ENSP00000296271.3:p.Cys187Phe |
| ENST00000296271.3:c.560G>T | ENSP00000296271.3:p.Cys187Phe |