gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41701563 (NFE)
Genomes Max Group AF
0.41701563 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37217269C>T , CM000684.2:g.37217269C>T | GRCh38 |
| NC_000022.10:g.37613309C>T , CM000684.1:g.37613309C>T | GRCh37 |
| NC_000022.9:g.35943255C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005261721.3:c.-37+3138G>A | XP_005261778.1:n.-37+3138G>A | |
| XM_011530349.1:c.-694-1381G>A | XP_011528651.1:n.-694-1381G>A | |
| XM_005261721.4:c.-37+3138G>A | XP_005261778.1:n.-37+3138G>A | |
| XM_011530349.2:c.-694-1381G>A | XP_011528651.1:n.-694-1381G>A | |
| XM_017028924.1:c.-437-1381G>A | XP_016884413.1:n.-437-1381G>A |