Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132785294C>A , CM000672.2:g.132785294C>A | GRCh38 |
| NC_000010.10:g.134598798C>A , CM000672.1:g.134598798C>A | GRCh37 |
| NC_000010.9:g.134448788C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177400.3:c.565G>T MANE Select | NP_796374.2:p.Glu189Ter |
| ENST00000368592.8:c.565G>T MANE Select | ENSP00000357581.5:p.Glu189Ter |
| NM_177400.2:c.565G>T | NP_796374.1:p.Glu189Ter |
| ENST00000368592.7:c.565G>T | ENSP00000357581.5:p.Glu189Ter |
| XM_017016789.2:c.565G>T | XP_016872278.1:p.Glu189Ter |