Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113878379C= , CM000669.2:g.113878379C= | GRCh38 |
| NC_000007.13:g.113518434C= , CM000669.1:g.113518434C= | GRCh37 |
| NC_000007.12:g.113305670C= | NCBI36 |
| NG_012116.1:g.45649G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284601.4:c.2713G= MANE Select | ENSP00000284601.3:p.Asp905= | |
| ENST00000284601.3:c.2713G= | ENSP00000284601.3:p.Asp905= | |
| NM_002711.3:c.2713G= | NP_002702.2:p.Asp905= | |
| XM_005250473.2:c.2110G= | XP_005250530.1:p.Asp704= | |
| XM_005250473.3:c.2110G= | XP_005250530.1:p.Asp704= | |
| NM_002711.4:c.2713G= MANE Select | NP_002702.2:p.Asp905= |