Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94111534C>T , CM000663.2:g.94111534C>T | GRCh38 |
| NC_000001.10:g.94577090C>T , CM000663.1:g.94577090C>T | GRCh37 |
| NC_000001.9:g.94349678C>T | NCBI36 |
| NG_009073.1:g.14616G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.206G>A MANE Select | NP_000341.2:p.Trp69Ter |
| ENST00000370225.4:c.206G>A MANE Select | ENSP00000359245.3:p.Trp69Ter |
| NM_000350.2:c.206G>A | NP_000341.2:p.Trp69Ter |
| ENST00000370225.3:c.206G>A | ENSP00000359245.3:p.Trp69Ter |
| ENST00000649773.1:c.206G>A | ENSP00000496882.1:p.Trp69Ter |