gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23781816C>G , CM000685.2:g.23781816C>G | GRCh38 |
| NC_000023.10:g.23799933C>G , CM000685.1:g.23799933C>G | GRCh37 |
| NC_000023.9:g.23709854C>G | NCBI36 |
| NG_012929.1:g.3659C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950535.1:n.334+752G>C | ||
| XR_001755813.1:n.334+752G>C | ||
| XR_001755814.1:n.334+752G>C | ||
| XR_001755815.1:n.334+752G>C | ||
| XR_001755816.2:n.303+752G>C | ||
| XR_001755817.1:n.325+752G>C | ||
| XR_001755818.2:n.222+1069G>C | ||
| XR_950535.2:n.334+752G>C |