Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151586613C>A , CM000668.2:g.151586613C>A | GRCh38 |
| NC_000006.11:g.151907748C>A , CM000668.1:g.151907748C>A | GRCh37 |
| NC_000006.10:g.151949441C>A | NCBI36 |
| NG_021198.1:g.97574C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025059.4:c.1293+524C>A MANE Select | NP_079335.2:n.1293+524C>A |
| ENST00000239374.8:c.1293+524C>A MANE Select | ENSP00000239374.6:n.1293+524C>A |
| NM_025059.3:c.1293+524C>A | NP_079335.2:n.1293+524C>A |
| ENST00000239374.7:c.1293+524C>A | ENSP00000239374.6:n.1293+524C>A |
| XM_011536147.1:c.1311+524C>A | XP_011534449.1:n.1311+524C>A |
| XM_011536147.2:c.1311+524C>A | XP_011534449.1:n.1311+524C>A |
| XM_011536148.1:c.1111-6494C>A | XP_011534450.1:n.1111-6494C>A |
| XM_011536148.2:c.1111-6494C>A | XP_011534450.1:n.1111-6494C>A |