gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.69219314T>G , CM000663.2:g.69219314T>G | GRCh38 |
| NC_000001.10:g.69684997T>G , CM000663.1:g.69684997T>G | GRCh37 |
| NC_000001.9:g.69457585T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947483.1:n.314-3308A>C | ||
| XR_947484.1:n.103-3308A>C | ||
| XR_947485.1:n.314-2244A>C | ||
| XR_947486.1:n.864+881T>G | ||
| XR_001738105.1:n.374-3308A>C | ||
| XR_947483.3:n.344-3308A>C | ||
| XR_947486.2:n.891+881T>G |