Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633296G>A , CM000665.2:g.120633296G>A | GRCh38 |
| NC_000003.11:g.120352143G>A , CM000665.1:g.120352143G>A | GRCh37 |
| NC_000003.10:g.121834833G>A | NCBI36 |
| NG_011957.1:g.54186C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1039C>T MANE Select | NP_000178.2:p.Arg347Ter |
| ENST00000283871.10:c.1039C>T MANE Select | ENSP00000283871.5:p.Arg347Ter |
| NM_000187.3:c.1039C>T | NP_000178.2:p.Arg347Ter |
| ENST00000283871.9:c.1039C>T | ENSP00000283871.5:p.Arg347Ter |
| ENST00000470321.1:n.379C>T | |
| ENST00000492108.5:c.318C>T | ENSP00000419838.1:n.318C>T |
| XM_005247412.1:c.814C>T | XP_005247469.1:p.Arg272Ter |
| XM_005247412.2:c.814C>T | XP_005247469.1:p.Arg272Ter |
| XM_017006277.2:c.616C>T | XP_016861766.1:p.Arg206Ter |