gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22388732 (AMR)
Genomes Max Group AF
0.22388732 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.13792792G>A , CM000666.2:g.13792792G>A | GRCh38 |
| NC_000004.11:g.13794416G>A , CM000666.1:g.13794416G>A | GRCh37 |
| NC_000004.10:g.13403514G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121681.1:n.282-36988G>A | ||
| XR_925415.1:n.523-5666C>T | ||
| XR_925416.1:n.523-7099C>T | ||
| XR_925417.1:n.523-25832C>T | ||
| XR_925418.1:n.523-5666C>T | ||
| XR_001741385.1:n.1105-5666C>T | ||
| XR_001741386.1:n.1097-7099C>T | ||
| XR_001741387.1:n.1108-5666C>T | ||
| XR_925415.2:n.1108-5666C>T | ||
| XR_925417.2:n.1098-25832C>T | ||
| XR_925418.2:n.1108-5666C>T |