Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173315060G>T , CM000663.2:g.173315060G>T | GRCh38 |
| NC_000001.10:g.173284199G>T , CM000663.1:g.173284199G>T | GRCh37 |
| NC_000001.9:g.171550822G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-75037C>A | ||
| XM_017002229.1:c.25-107875C>A | XP_016857718.1:n.25-107875C>A | |
| XM_017002230.1:c.18+87199C>A | XP_016857719.1:n.18+87199C>A |