Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633254C>T , CM000665.2:g.120633254C>T | GRCh38 |
| NC_000003.11:g.120352101C>T , CM000665.1:g.120352101C>T | GRCh37 |
| NC_000003.10:g.121834791C>T | NCBI36 |
| NG_011957.1:g.54228G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1081G>A MANE Select | NP_000178.2:p.Gly361Arg |
| ENST00000283871.10:c.1081G>A MANE Select | ENSP00000283871.5:p.Gly361Arg |
| NM_000187.3:c.1081G>A | NP_000178.2:p.Gly361Arg |
| ENST00000283871.9:c.1081G>A | ENSP00000283871.5:p.Gly361Arg |
| ENST00000470321.1:n.421G>A | |
| ENST00000492108.5:c.360G>A | ENSP00000419838.1:n.360G>A |
| XM_005247412.1:c.856G>A | XP_005247469.1:p.Gly286Arg |
| XM_005247412.2:c.856G>A | XP_005247469.1:p.Gly286Arg |
| XM_017006277.2:c.658G>A | XP_016861766.1:p.Gly220Arg |