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