Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31000943G>A , CM000678.2:g.31000943G>A | GRCh38 |
| NC_000016.9:g.31012264G>A , CM000678.1:g.31012264G>A | GRCh37 |
| NC_000016.8:g.30919765G>A | NCBI36 |
| NG_041829.1:g.14566C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052874.5:c.265C>T MANE Select | NP_443106.1:p.Arg89Trp |
| ENST00000215095.11:c.265C>T MANE Select | ENSP00000215095.5:p.Arg89Trp |
| NM_052874.4:c.265C>T | NP_443106.1:p.Arg89Trp |
| ENST00000215095.9:c.265C>T | ENSP00000215095.5:p.Arg89Trp |
| ENST00000561836.1:n.371C>T | |
| ENST00000565419.1:c.265C>T | ENSP00000455899.1:p.Arg89Trp |
| ENST00000565419.2:c.265C>T | ENSP00000455899.1:p.Arg89Trp |
| ENST00000569638.5:c.13C>T | ENSP00000457067.1:p.Arg5Trp |
| XM_017022893.1:c.247C>T | XP_016878382.1:p.Arg83Trp |