Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774529C>T , CM000678.2:g.74774529C>T | GRCh38 |
| NC_000016.9:g.74808427C>T , CM000678.1:g.74808427C>T | GRCh37 |
| NC_000016.8:g.73365928C>T | NCBI36 |
| NG_017070.1:g.5303G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024306.5:c.227G>A MANE Select | NP_077282.3:p.Trp76Ter |
| ENST00000219368.8:c.227G>A MANE Select | ENSP00000219368.3:p.Trp76Ter |
| NM_024306.4:c.227G>A | NP_077282.3:p.Trp76Ter |
| ENST00000219368.7:c.227G>A | ENSP00000219368.3:p.Trp76Ter |
| ENST00000567683.5:c.227G>A | ENSP00000455126.1:p.Trp76Ter |
| XM_011523317.1:c.227G>A | XP_011521619.1:p.Trp76Ter |
| XM_011523317.3:c.227G>A | XP_011521619.1:p.Trp76Ter |
| XM_011523318.1:c.227G>A | XP_011521620.1:p.Trp76Ter |