Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183125412T>A , CM000663.2:g.183125412T>A | GRCh38 |
| NC_000001.10:g.183094547T>A , CM000663.1:g.183094547T>A | GRCh37 |
| NC_000001.9:g.181361170T>A | NCBI36 |
| NG_011463.1:g.106953T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.2663T>A MANE Select | NP_002284.3:p.Leu888Gln |
| ENST00000258341.5:c.2663T>A MANE Select | ENSP00000258341.3:p.Leu888Gln |
| NM_002293.3:c.2663T>A | NP_002284.3:p.Leu888Gln |
| ENST00000258341.4:c.2663T>A | ENSP00000258341.3:p.Leu888Gln |
| ENST00000466964.1:n.225T>A |