gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1973693C>G , CM000682.2:g.1973693C>G | GRCh38 |
| NC_000020.10:g.1954339C>G , CM000682.1:g.1954339C>G | GRCh37 |
| NC_000020.9:g.1902339C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244229.1:n.1216+7350C>G | ||
| NR_134520.1:n.1252+7350C>G |