gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26437376 (MID)
Genomes Max Group AF
0.26270233 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231406573A>C , CM000664.2:g.231406573A>C | GRCh38 |
| NC_000002.11:g.232271284A>C , CM000664.1:g.232271284A>C | GRCh37 |
| NC_000002.10:g.231979528A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512292.1:c.*325A>C | XP_011510594.1:n.*325A>C | |
| XM_011512293.1:c.*325A>C | XP_011510595.1:n.*325A>C | |
| XR_923064.1:n.3090-1776A>C |