Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30204995G>C , CM000679.2:g.30204995G>C | GRCh38 |
| NC_000017.10:g.28532013G>C , CM000679.1:g.28532013G>C | GRCh37 |
| NC_000017.9:g.25556139G>C | NCBI36 |
| NG_011747.2:g.35942C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001045.6:c.1651-1656C>G MANE Select | NP_001036.1:n.1651-1656C>G |
| ENST00000650711.1:c.1651-1656C>G MANE Select | ENSP00000498537.1:n.1651-1656C>G |
| NM_001045.5:c.1651-1656C>G | NP_001036.1:n.1651-1656C>G |
| ENST00000261707.7:c.1651-1656C>G | ENSP00000261707.3:n.1651-1656C>G |
| ENST00000394821.2:c.1651-1656C>G | ENSP00000378298.2:n.1651-1656C>G |
| ENST00000401766.6:c.1651-1656C>G | ENSP00000385822.2:n.1651-1656C>G |
| ENST00000579221.5:c.292-1656C>G |