Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113878379C>A , CM000669.2:g.113878379C>A | GRCh38 |
| NC_000007.13:g.113518434C>A , CM000669.1:g.113518434C>A | GRCh37 |
| NC_000007.12:g.113305670C>A | NCBI36 |
| NG_012116.1:g.45649G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002711.4:c.2713G>T MANE Select | NP_002702.2:p.Asp905Tyr |
| ENST00000284601.4:c.2713G>T MANE Select | ENSP00000284601.3:p.Asp905Tyr |
| NM_002711.3:c.2713G>T | NP_002702.2:p.Asp905Tyr |
| ENST00000284601.3:c.2713G>T | ENSP00000284601.3:p.Asp905Tyr |
| XM_005250473.2:c.2110G>T | XP_005250530.1:p.Asp704Tyr |
| XM_005250473.3:c.2110G>T | XP_005250530.1:p.Asp704Tyr |