Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122489619A>C , CM000672.2:g.122489619A>C | GRCh38 |
| NC_000010.10:g.124249135A>C , CM000672.1:g.124249135A>C | GRCh37 |
| NC_000010.9:g.124239125A>C | NCBI36 |
| NG_011554.1:g.33095A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002775.5:c.770A>C MANE Select | NP_002766.1:p.Asp257Ala |
| ENST00000368984.8:c.770A>C MANE Select | ENSP00000357980.3:p.Asp257Ala |
| NM_002775.4:c.770A>C | NP_002766.1:p.Asp257Ala |
| ENST00000368984.7:c.770A>C | ENSP00000357980.3:p.Asp257Ala |
| ENST00000648167.1:c.452A>C | ENSP00000498033.1:p.Asp151Ala |