Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21077717G>T , CM000671.2:g.21077717G>T | GRCh38 |
| NC_000009.11:g.21077716G>T , CM000671.1:g.21077716G>T | GRCh37 |
| NC_000009.10:g.21067716G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002176.4:c.153C>A MANE Select | NP_002167.1:p.Tyr51Ter |
| ENST00000380232.4:c.153C>A MANE Select | ENSP00000369581.2:p.Tyr51Ter |
| NM_002176.2:c.153C>A | NP_002167.1:p.Tyr51Ter |
| NM_002176.3:c.153C>A | NP_002167.1:p.Tyr51Ter |
| ENST00000380232.3:c.153C>A | ENSP00000369581.2:p.Tyr51Ter |