Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119664753G>A , CM000673.2:g.119664753G>A | GRCh38 |
| NC_000011.9:g.119535463G>A , CM000673.1:g.119535463G>A | GRCh37 |
| NC_000011.8:g.119040673G>A | NCBI36 |
| NG_013083.1:g.68973C>T | |
| NG_013083.2:g.68973C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002855.5:c.1548C>T MANE Select | NP_002846.3:p.Tyr516= |
| ENST00000264025.8:c.1548C>T MANE Select | ENSP00000264025.3:p.Tyr516= |
| NM_002855.4:c.1548C>T | NP_002846.3:p.Tyr516= |
| NM_203285.1:c.1003+10406C>T | NP_976030.1:n.1003+10406C>T |
| NM_203285.2:c.1003+10406C>T | NP_976030.1:n.1003+10406C>T |
| ENST00000264025.7:c.1548C>T | ENSP00000264025.3:p.Tyr516= |
| ENST00000341398.6:c.1003+10406C>T | ENSP00000344974.2:n.1003+10406C>T |
| ENST00000531468.2:c.1003+10406C>T | ENSP00000513010.1:n.1003+10406C>T |