Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363439C>A , CM000682.2:g.38363439C>A | GRCh38 |
| NC_000020.10:g.36992093C>A , CM000682.1:g.36992093C>A | GRCh37 |
| NC_000020.9:g.36425507C>A | NCBI36 |
| NG_034239.1:g.22029C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.653-536C>A MANE Select | ENSP00000217407.2:n.653-536C>A | |
| ENST00000217407.2:c.653-536C>A | ENSP00000217407.2:n.653-536C>A | |
| NM_004139.4:c.653-536C>A | NP_004130.2:n.653-536C>A | |
| NM_004139.5:c.653-536C>A MANE Select | NP_004130.2:n.653-536C>A |