Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119415096A>G , CM000665.2:g.119415096A>G | GRCh38 |
| NC_000003.11:g.119133943A>G , CM000665.1:g.119133943A>G | GRCh37 |
| NC_000003.10:g.120616633A>G | NCBI36 |
| NG_007665.2:g.125724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.3167A>G MANE Select | ENSP00000264245.4:p.Gln1056Arg | |
| ENST00000264245.8:c.3167A>G | ENSP00000264245.4:p.Gln1056Arg | |
| NM_020754.3:c.3167A>G | NP_065805.2:p.Gln1056Arg | |
| XM_005247671.3:c.3074A>G | XP_005247728.1:p.Gln1025Arg | |
| XM_006713714.2:c.3107A>G | XP_006713777.1:p.Gln1036Arg | |
| XM_006713714.3:c.3107A>G | XP_006713777.1:p.Gln1036Arg | |
| XM_017006955.1:c.2675A>G | XP_016862444.1:p.Gln892Arg | |
| NM_020754.4:c.3167A>G MANE Select | NP_065805.2:p.Gln1056Arg |