Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159061489C>G , CM000668.2:g.159061489C>G | GRCh38 |
| NC_000006.11:g.159482521C>G , CM000668.1:g.159482521C>G | GRCh37 |
| NC_000006.10:g.159402509C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011536288.1:c.621+2092G>C | XP_011534590.1:n.621+2092G>C |
| XM_011536289.1:c.507+2092G>C | XP_011534591.1:n.507+2092G>C |
| XM_024446608.1:c.*1626G>C | XP_024302376.1:n.*1626G>C |
| XR_001744430.2:n.1247-5750C>G |