Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62721825C>T , CM000682.2:g.62721825C>T | GRCh38 |
| NC_000020.10:g.61353177C>T , CM000682.1:g.61353177C>T | GRCh37 |
| NC_000020.9:g.60823622C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002531.3:c.714+11904C>T MANE Select | NP_002522.2:n.714+11904C>T |
| ENST00000370501.4:c.714+11904C>T MANE Select | ENSP00000359532.3:n.714+11904C>T |
| NM_002531.2:c.714+11904C>T | NP_002522.2:n.714+11904C>T |
| ENST00000370501.3:c.714+11904C>T | ENSP00000359532.3:n.714+11904C>T |
| XM_011528827.1:c.714+11904C>T | XP_011527129.1:n.714+11904C>T |
| XM_011528827.2:c.714+11904C>T | XP_011527129.1:n.714+11904C>T |