Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183110632G>A , CM000663.2:g.183110632G>A | GRCh38 |
| NC_000001.10:g.183079767G>A , CM000663.1:g.183079767G>A | GRCh37 |
| NC_000001.9:g.181346390G>A | NCBI36 |
| NG_011463.1:g.92173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.999G>A MANE Select | ENSP00000258341.3:p.Ala333= | |
| ENST00000258341.4:c.999G>A | ENSP00000258341.3:p.Ala333= | |
| ENST00000479499.1:n.52G>A | ||
| NM_002293.3:c.999G>A | NP_002284.3:p.Ala333= | |
| NM_002293.4:c.999G>A MANE Select | NP_002284.3:p.Ala333= |