Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21077717G>A , CM000671.2:g.21077717G>A | GRCh38 |
| NC_000009.11:g.21077716G>A , CM000671.1:g.21077716G>A | GRCh37 |
| NC_000009.10:g.21067716G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002176.4:c.153C>T MANE Select | NP_002167.1:p.Tyr51= |
| ENST00000380232.4:c.153C>T MANE Select | ENSP00000369581.2:p.Tyr51= |
| NM_002176.2:c.153C>T | NP_002167.1:p.Tyr51= |
| NM_002176.3:c.153C>T | NP_002167.1:p.Tyr51= |
| ENST00000380232.3:c.153C>T | ENSP00000369581.2:p.Tyr51= |