Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137192511G>A , CM000671.2:g.137192511G>A | GRCh38 |
| NC_000009.11:g.140086963G>A , CM000671.1:g.140086963G>A | GRCh37 |
| NC_000009.10:g.139206784G>A | NCBI36 |
| NG_027801.1:g.13201C>T | |
| NG_027801.2:g.16683C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.1906C>T MANE Select | NP_001121700.2:p.Arg636Trp |
| ENST00000409012.6:c.1906C>T MANE Select | ENSP00000387100.4:p.Arg636Trp |
| NM_001128228.2:c.1906C>T | NP_001121700.2:p.Arg636Trp |
| ENST00000333046.8:c.1300C>T | ENSP00000327617.4:p.Arg434Trp |
| ENST00000409012.4:c.1906C>T | ENSP00000387100.4:p.Arg636Trp |
| ENST00000477345.1:n.2627C>T |