Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75707062C>A , CM000676.2:g.75707062C>A | GRCh38 |
| NC_000014.8:g.76173405C>A , CM000676.1:g.76173405C>A | GRCh37 |
| NC_000014.7:g.75243158C>A | NCBI36 |
| NG_016974.1:g.50855C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015072.5:c.630C>A MANE Select | NP_055887.3:p.Tyr210Ter |
| ENST00000298832.14:c.630C>A MANE Select | ENSP00000298832.9:p.Tyr210Ter |
| NM_015072.4:c.630C>A | NP_055887.3:p.Tyr210Ter |
| ENST00000286650.9:c.630C>A | ENSP00000286650.5:p.Tyr210Ter |
| ENST00000298832.13:c.630C>A | ENSP00000298832.9:p.Tyr210Ter |
| ENST00000555422.5:n.99C>A | |
| ENST00000556173.5:n.556C>A | |
| ENST00000557636.5:c.630C>A | ENSP00000450713.1:p.Tyr210Ter |