Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916360T>C , CM000663.2:g.119916360T>C | GRCh38 |
| NC_000001.10:g.120458983T>C , CM000663.1:g.120458983T>C | GRCh37 |
| NC_000001.9:g.120260506T>C | NCBI36 |
| NG_008163.1:g.158294A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.6362A>G MANE Select | NP_077719.2:p.Lys2121Arg |
| ENST00000256646.7:c.6362A>G MANE Select | ENSP00000256646.2:p.Lys2121Arg |
| NM_024408.3:c.6362A>G | NP_077719.2:p.Lys2121Arg |
| ENST00000256646.6:c.6362A>G | ENSP00000256646.2:p.Lys2121Arg |
| XM_005270901.2:c.6245A>G | XP_005270958.1:p.Lys2082Arg |
| XM_011541519.1:c.6350A>G | XP_011539821.1:p.Lys2117Arg |
| XM_011541520.1:c.6245A>G | XP_011539822.1:p.Lys2082Arg |