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