Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633274T>C , CM000665.2:g.120633274T>C | GRCh38 |
| NC_000003.11:g.120352121T>C , CM000665.1:g.120352121T>C | GRCh37 |
| NC_000003.10:g.121834811T>C | NCBI36 |
| NG_011957.1:g.54208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1061A>G MANE Select | ENSP00000283871.5:p.Gln354Arg | |
| ENST00000283871.9:c.1061A>G | ENSP00000283871.5:p.Gln354Arg | |
| ENST00000470321.1:n.401A>G | ||
| ENST00000492108.5:c.340A>G | ENSP00000419838.1:n.340A>G | |
| NM_000187.3:c.1061A>G | NP_000178.2:p.Gln354Arg | |
| XM_005247412.1:c.836A>G | XP_005247469.1:p.Gln279Arg | |
| XM_005247412.2:c.836A>G | XP_005247469.1:p.Gln279Arg | |
| XM_017006277.2:c.638A>G | XP_016861766.1:p.Gln213Arg | |
| NM_000187.4:c.1061A>G MANE Select | NP_000178.2:p.Gln354Arg |