Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110181275G>C , CM000675.2:g.110181275G>C | GRCh38 |
| NC_000013.10:g.110833622G>C , CM000675.1:g.110833622G>C | GRCh37 |
| NC_000013.9:g.109631623G>C | NCBI36 |
| NG_011544.2:g.130875C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.2193+17C>G MANE Select | NP_001836.3:n.2193+17C>G |
| ENST00000375820.10:c.2193+17C>G MANE Select | ENSP00000364979.4:n.2193+17C>G |
| NM_001845.5:c.2193+17C>G | NP_001836.3:n.2193+17C>G |
| ENST00000375820.8:c.2193+17C>G | ENSP00000364979.4:n.2193+17C>G |
| ENST00000649738.1:n.2323+17C>G | |
| XM_011521048.1:c.2001+17C>G | XP_011519350.1:n.2001+17C>G |
| XM_011521048.2:c.2001+17C>G | XP_011519350.1:n.2001+17C>G |