gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173315060G>C , CM000663.2:g.173315060G>C | GRCh38 |
| NC_000001.10:g.173284199G>C , CM000663.1:g.173284199G>C | GRCh37 |
| NC_000001.9:g.171550822G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-75037C>G | ||
| XM_017002229.1:c.25-107875C>G | XP_016857718.1:n.25-107875C>G | |
| XM_017002230.1:c.18+87199C>G | XP_016857719.1:n.18+87199C>G |