Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55056148C>T , CM000663.2:g.55056148C>T | GRCh38 |
| NC_000001.10:g.55521821C>T , CM000663.1:g.55521821C>T | GRCh37 |
| NC_000001.9:g.55294409C>T | NCBI36 |
| NG_009061.1:g.21602C>T , LRG_275:g.21602C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.955C>T MANE Select | NP_777596.2:p.Arg319Trp |
| ENST00000302118.5:c.955C>T MANE Select | ENSP00000303208.5:p.Arg319Trp |
| NM_174936.3:c.955C>T , LRG_275t1:c.955C>T | NP_777596.2:p.Arg319Trp |
| NR_110451.1:n.614C>T | |
| NR_110451.2:n.614C>T | |
| ENST00000490692.1:n.1776C>T | |
| ENST00000673903.1:c.580C>T | ENSP00000501257.1:p.Arg194Trp |
| ENST00000673913.2:c.955C>T | ENSP00000501161.2:p.Arg319Trp |
| ENST00000710286.1:c.1312C>T | ENSP00000518176.1:p.Arg438Trp |