Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151911G>A , CM000681.2:g.55151911G>A | GRCh38 |
| NC_000019.9:g.55663279G>A , CM000681.1:g.55663279G>A | GRCh37 |
| NC_000019.8:g.60355091G>A | NCBI36 |
| NG_007866.2:g.10822C>T , LRG_432:g.10822C>T | |
| NG_011829.2:g.2328C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.556C>T MANE Select | NP_000354.4:p.Arg186Trp |
| ENST00000344887.10:c.556C>T MANE Select | ENSP00000341838.5:p.Arg186Trp |
| NM_000363.4:c.556C>T , LRG_432t1:c.556C>T | NP_000354.4:p.Arg186Trp |
| ENST00000344887.9:c.556C>T | ENSP00000341838.5:p.Arg186Trp |
| ENST00000585806.5:n.555C>T | |
| ENST00000588882.1:c.481C>T | ENSP00000466729.1:p.Arg161Trp |
| ENST00000589864.1:n.384C>T | |
| ENST00000665070.1:c.589C>T | ENSP00000499482.1:p.Arg197Trp |