Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173340574A>G , CM000663.2:g.173340574A>G | GRCh38 |
| NC_000001.10:g.173309713A>G , CM000663.1:g.173309713A>G | GRCh37 |
| NC_000001.9:g.171576336A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037845.1:n.656-100551T>C | |
| XM_017002229.1:c.24+101345T>C | XP_016857718.1:n.24+101345T>C |
| XM_017002230.1:c.18+61685T>C | XP_016857719.1:n.18+61685T>C |