Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62464942T>C , CM000682.2:g.62464942T>C | GRCh38 |
| NC_000020.10:g.61039998T>C , CM000682.1:g.61039998T>C | GRCh37 |
| NC_000020.9:g.60473393T>C | NCBI36 |
| NG_046963.1:g.16029A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080473.5:c.1088A>G MANE Select | NP_536721.1:p.Lys363Arg |
| ENST00000252997.3:c.1088A>G MANE Select | ENSP00000252997.2:p.Lys363Arg |
| NM_080473.4:c.1088A>G | NP_536721.1:p.Lys363Arg |
| ENST00000252997.2:c.1088A>G | ENSP00000252997.2:p.Lys363Arg |
| XM_006723699.2:c.1088A>G | XP_006723762.1:p.Lys363Arg |
| XM_006723699.3:c.1088A>G | XP_006723762.1:p.Lys363Arg |