gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81308627 (AFR)
Genomes Max Group AF
0.81308627 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42758663T>C , CM000664.2:g.42758663T>C | GRCh38 |
| NC_000002.11:g.42985803T>C , CM000664.1:g.42985803T>C | GRCh37 |
| NC_000002.10:g.42839307T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939697.1:n.1791-25252T>C | ||
| XR_001738859.2:n.1794-25252T>C | ||
| XR_939697.3:n.1794-25252T>C |