Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6179987G>A , CM000663.2:g.6179987G>A | GRCh38 |
| NC_000001.10:g.6240047G>A , CM000663.1:g.6240047G>A | GRCh37 |
| NC_000001.9:g.6162634G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015557.3:c.37C>T MANE Select | NP_056372.1:p.Arg13Trp |
| ENST00000262450.8:c.37C>T MANE Select | ENSP00000262450.3:p.Arg13Trp |
| NM_015557.2:c.37C>T | NP_056372.1:p.Arg13Trp |
| ENST00000262450.7:c.37C>T | ENSP00000262450.3:p.Arg13Trp |
| ENST00000484532.6:c.*199+1282C>T | ENSP00000465763.1:n.*199+1282C>T |
| ENST00000496404.1:c.37C>T | ENSP00000433676.1:p.Arg13Trp |