Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183132490G>A , CM000663.2:g.183132490G>A | GRCh38 |
| NC_000001.10:g.183101625G>A , CM000663.1:g.183101625G>A | GRCh37 |
| NC_000001.9:g.181368248G>A | NCBI36 |
| NG_011463.1:g.114031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.3657G>A MANE Select | ENSP00000258341.3:p.Leu1219= | |
| ENST00000258341.4:c.3657G>A | ENSP00000258341.3:p.Leu1219= | |
| ENST00000478064.1:n.602G>A | ||
| NM_002293.3:c.3657G>A | NP_002284.3:p.Leu1219= | |
| NM_002293.4:c.3657G>A MANE Select | NP_002284.3:p.Leu1219= |