Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16149318G>C , CM000663.2:g.16149318G>C | GRCh38 |
| NC_000001.10:g.16475813G>C , CM000663.1:g.16475813G>C | GRCh37 |
| NC_000001.9:g.16348400G>C | NCBI36 |
| NG_021396.1:g.11770C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.154-271C>G MANE Select | NP_004422.2:n.154-271C>G |
| ENST00000358432.8:c.154-271C>G MANE Select | ENSP00000351209.5:n.154-271C>G |
| NM_001329090.1:c.-9-271C>G | NP_001316019.1:n.-9-271C>G |
| NM_001329090.2:c.-9-271C>G | NP_001316019.1:n.-9-271C>G |
| NM_004431.3:c.154-271C>G | NP_004422.2:n.154-271C>G |
| NM_004431.4:c.154-271C>G | NP_004422.2:n.154-271C>G |
| ENST00000358432.7:c.154-271C>G | ENSP00000351209.5:n.154-271C>G |
| ENST00000461614.1:n.206-271C>G | |
| XM_017000537.1:c.154-271C>G | XP_016856026.1:n.154-271C>G |