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