Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924366C>T , CM000675.2:g.27924366C>T | GRCh38 |
| NC_000013.10:g.28498503C>T , CM000675.1:g.28498503C>T | GRCh37 |
| NC_000013.9:g.27396503C>T | NCBI36 |
| NG_008183.1:g.9336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.517C>T MANE Select | ENSP00000370421.4:p.Arg173Trp | |
| ENST00000381033.4:c.517C>T | ENSP00000370421.4:p.Arg173Trp | |
| NM_000209.3:c.517C>T | NP_000200.1:p.Arg173Trp | |
| NM_000209.4:c.517C>T MANE Select | NP_000200.1:p.Arg173Trp |