Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38349233G>A , CM000682.2:g.38349233G>A | GRCh38 |
| NC_000020.10:g.36977636G>A , CM000682.1:g.36977636G>A | GRCh37 |
| NC_000020.9:g.36411050G>A | NCBI36 |
| NG_034239.1:g.7823G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004139.5:c.125-315G>A MANE Select | NP_004130.2:n.125-315G>A |
| ENST00000217407.3:c.125-315G>A MANE Select | ENSP00000217407.2:n.125-315G>A |
| NM_004139.4:c.125-315G>A | NP_004130.2:n.125-315G>A |
| ENST00000217407.2:c.125-315G>A | ENSP00000217407.2:n.125-315G>A |