gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86305127 (EAS)
Genomes Max Group AF
0.86305127 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851858T>C , CM000671.2:g.97851858T>C | GRCh38 |
| NC_000009.11:g.100614140T>C , CM000671.1:g.100614140T>C | GRCh37 |
| NC_000009.10:g.99653961T>C | NCBI36 |
| NG_011979.1:g.3604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+1018A>G | ||
| XR_930159.1:n.218+1018A>G | ||
| XR_930160.1:n.218+1018A>G | ||
| XR_930161.1:n.218+1018A>G | ||
| NR_147055.1:n.165+1058A>G |