Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47584433G>A , CM000673.2:g.47584433G>A | GRCh38 |
| NC_000011.9:g.47605985G>A , CM000673.1:g.47605985G>A | GRCh37 |
| NC_000011.8:g.47562561G>A | NCBI36 |
| NG_011946.1:g.10424G>A | |
| NG_011946.2:g.10424G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004551.3:c.747G>A MANE Select | NP_004542.1:p.Pro249= |
| ENST00000263774.9:c.747G>A MANE Select | ENSP00000263774.4:p.Pro249= |
| NM_004551.2:c.747G>A | NP_004542.1:p.Pro249= |
| ENST00000263774.8:c.747G>A | ENSP00000263774.4:p.Pro249= |
| ENST00000525212.1:n.402G>A | |
| ENST00000525378.5:n.685G>A | |
| ENST00000531351.2:n.1942G>A | |
| ENST00000533507.5:n.1641G>A | |
| ENST00000677462.1:n.3221G>A | |
| ENST00000678975.1:n.3004G>A |