Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6142297G>A , CM000663.2:g.6142297G>A | GRCh38 |
| NC_000001.10:g.6202357G>A , CM000663.1:g.6202357G>A | GRCh37 |
| NC_000001.9:g.6124944G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015557.3:c.2267C>T MANE Select | NP_056372.1:p.Ala756Val |
| ENST00000262450.8:c.2267C>T MANE Select | ENSP00000262450.3:p.Ala756Val |
| NM_015557.2:c.2267C>T | NP_056372.1:p.Ala756Val |
| ENST00000262450.7:c.2267C>T | ENSP00000262450.3:p.Ala756Val |
| ENST00000462991.5:c.414C>T | |
| ENST00000496404.1:c.2267C>T | ENSP00000433676.1:p.Ala756Val |