Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31792457G>A , CM000668.2:g.31792457G>A | GRCh38 |
| NC_000006.11:g.31760234G>A , CM000668.1:g.31760234G>A | GRCh37 |
| NC_000006.10:g.31868213G>A | NCBI36 |
| NG_028229.1:g.8479C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006295.3:c.721C>T MANE Select | NP_006286.1:p.Arg241Trp |
| ENST00000375663.8:c.721C>T MANE Select | ENSP00000364815.3:p.Arg241Trp |
| NM_006295.2:c.721C>T | NP_006286.1:p.Arg241Trp |
| ENST00000375663.7:c.721C>T | ENSP00000364815.3:p.Arg241Trp |
| ENST00000495010.5:n.264C>T | |
| XM_005249362.2:c.721C>T | XP_005249419.1:p.Arg241Trp |
| XM_024446537.1:c.-931C>T | XP_024302305.1:n.-931C>T |
| XR_926304.1:n.1137C>T | |
| XR_926304.2:n.1137C>T |