Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633221C>T , CM000665.2:g.120633221C>T | GRCh38 |
| NC_000003.11:g.120352068C>T , CM000665.1:g.120352068C>T | GRCh37 |
| NC_000003.10:g.121834758C>T | NCBI36 |
| NG_011957.1:g.54261G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1114G>A MANE Select | NP_000178.2:p.Gly372Arg |
| ENST00000283871.10:c.1114G>A MANE Select | ENSP00000283871.5:p.Gly372Arg |
| NM_000187.3:c.1114G>A | NP_000178.2:p.Gly372Arg |
| ENST00000283871.9:c.1114G>A | ENSP00000283871.5:p.Gly372Arg |
| ENST00000470321.1:n.454G>A | |
| ENST00000492108.5:c.393G>A | ENSP00000419838.1:n.393G>A |
| XM_005247412.1:c.889G>A | XP_005247469.1:p.Gly297Arg |
| XM_005247412.2:c.889G>A | XP_005247469.1:p.Gly297Arg |
| XM_017006277.2:c.691G>A | XP_016861766.1:p.Gly231Arg |