Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118679G>A , CM000676.2:g.50118679G>A | GRCh38 |
| NC_000014.8:g.50585397G>A , CM000676.1:g.50585397G>A | GRCh37 |
| NC_000014.7:g.49655147G>A | NCBI36 |
| NG_051073.1:g.118015C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3664C>T MANE Select | NP_008870.2:p.Arg1222Trp |
| ENST00000216373.10:c.3664C>T MANE Select | ENSP00000216373.5:p.Arg1222Trp |
| NM_006939.2:c.3664C>T | NP_008870.2:p.Arg1222Trp |
| NM_006939.3:c.3664C>T | NP_008870.2:p.Arg1222Trp |
| ENST00000216373.9:c.3664C>T | ENSP00000216373.5:p.Arg1222Trp |
| ENST00000543680.5:c.3565C>T | ENSP00000445328.1:p.Arg1189Trp |
| XM_005268021.1:c.3484C>T | XP_005268078.1:p.Arg1162Trp |
| XM_011537103.1:c.3625C>T | XP_011535405.1:p.Arg1209Trp |