Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21307762C>T , CM000676.2:g.21307762C>T | GRCh38 |
| NC_000014.8:g.21775921C>T , CM000676.1:g.21775921C>T | GRCh37 |
| NC_000014.7:g.20845761C>T | NCBI36 |
| NG_008933.1:g.24786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.832C>T MANE Select | ENSP00000382895.2:p.Arg278Ter | |
| ENST00000400017.6:c.832C>T | ENSP00000382895.2:p.Arg278Ter | |
| ENST00000556336.5:c.751C>T | ENSP00000450445.1:p.Arg251Ter | |
| ENST00000557771.5:c.751C>T | ENSP00000451219.1:p.Arg251Ter | |
| NM_020366.3:c.832C>T | NP_065099.3:p.Arg278Ter | |
| XM_011536983.1:c.799C>T | XP_011535285.1:p.Arg267Ter | |
| NM_020366.4:c.832C>T MANE Select | NP_065099.3:p.Arg278Ter |