gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173380586A>G , CM000663.2:g.173380586A>G | GRCh38 |
| NC_000001.10:g.173349725A>G , CM000663.1:g.173349725A>G | GRCh37 |
| NC_000001.9:g.171616348A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.655+81738T>C | ||
| XM_017002229.1:c.24+61333T>C | XP_016857718.1:n.24+61333T>C | |
| XM_017002230.1:c.18+21673T>C | XP_016857719.1:n.18+21673T>C |