gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37629297 (EAS)
Genomes Max Group AF
0.37629297 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171158257A>G , CM000663.2:g.171158257A>G | GRCh38 |
| NC_000001.10:g.171127396A>G , CM000663.1:g.171127396A>G | GRCh37 |
| NC_000001.9:g.169394020A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639957.1:n.1187-2901A>G | ||
| ENST00000236166.4:n.1257-2776A>G | ||
| ENST00000367754.3:n.1720-2901A>G | ||
| ENST00000633725.1:n.25-2807A>G | ||
| NR_002601.1:n.1720-2901A>G | ||
| XR_922278.1:n.592+9847T>C | ||
| XR_001738291.2:n.1391+9847T>C | ||
| XR_922278.3:n.1391+9847T>C |