Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242778G>A , CM000684.2:g.20242778G>A | GRCh38 |
| NC_000022.10:g.20230301G>A , CM000684.1:g.20230301G>A | GRCh37 |
| NC_000022.9:g.18610301G>A | NCBI36 |
| NG_012176.1:g.30516C>T | |
| NG_012176.2:g.30516C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023004.6:c.355C>T MANE Select | NP_075380.1:p.Arg119Trp |
| ENST00000043402.8:c.355C>T MANE Select | ENSP00000043402.7:p.Arg119Trp |
| NM_023004.5:c.355C>T | NP_075380.1:p.Arg119Trp |
| ENST00000043402.7:c.355C>T | ENSP00000043402.7:p.Arg119Trp |
| ENST00000416372.5:c.414C>T | |
| ENST00000425986.1:c.612C>T | |
| ENST00000469601.1:n.491C>T |