Canonical Allele Identifier:
CA13801408
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36761692 (NFE)
Genomes Max Group AF
0.36761692 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109599813G>A , CM000675.2:g.109599813G>A | GRCh38 |
| NC_000013.10:g.110252160G>A , CM000675.1:g.110252160G>A | GRCh37 |
| NC_000013.9:g.109050161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931719.1:n.385+6396C>T | ||
| XR_931720.1:n.887+131130C>T | ||
| XR_931721.1:n.887+131130C>T | ||
| XR_001750012.1:n.2787G>A | ||
| XR_001750013.1:n.2021G>A | ||
| XR_001750014.1:n.2839G>A | ||
| XR_001750015.1:n.2263G>A | ||
| XR_001750016.1:n.1345G>A |