Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414370G>A , CM000665.2:g.119414370G>A | GRCh38 |
| NC_000003.11:g.119133217G>A , CM000665.1:g.119133217G>A | GRCh37 |
| NC_000003.10:g.120615907G>A | NCBI36 |
| NG_007665.2:g.124998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2441G>A MANE Select | ENSP00000264245.4:p.Arg814Lys | |
| ENST00000264245.8:c.2441G>A | ENSP00000264245.4:p.Arg814Lys | |
| NM_020754.3:c.2441G>A | NP_065805.2:p.Arg814Lys | |
| XM_005247671.3:c.2348G>A | XP_005247728.1:p.Arg783Lys | |
| XM_006713714.2:c.2381G>A | XP_006713777.1:p.Arg794Lys | |
| XM_006713714.3:c.2381G>A | XP_006713777.1:p.Arg794Lys | |
| XM_017006955.1:c.1949G>A | XP_016862444.1:p.Arg650Lys | |
| NM_020754.4:c.2441G>A MANE Select | NP_065805.2:p.Arg814Lys |