Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169510822T>G , CM000664.2:g.169510822T>G | GRCh38 |
| NC_000002.11:g.170367332T>G , CM000664.1:g.170367332T>G | GRCh37 |
| NC_000002.10:g.170075578T>G | NCBI36 |
| NG_042051.1:g.6121T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.1044T>G MANE Select | NP_006054.2:p.Tyr348Ter |
| ENST00000284669.2:c.1044T>G MANE Select | ENSP00000284669.1:p.Tyr348Ter |
| NM_006063.2:c.1044T>G | NP_006054.2:p.Tyr348Ter |
| ENST00000284669.1:c.1044T>G | ENSP00000284669.1:p.Tyr348Ter |
| ENST00000513963.1:c.925-3752T>G | ENSP00000424363.1:n.925-3752T>G |