Canonical Allele Identifier:
CA11388870
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94113203 (AFR)
Genomes Max Group AF
0.94113203 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180832914G>T , CM000665.2:g.180832914G>T | GRCh38 |
| NC_000003.11:g.180550702G>T , CM000665.1:g.180550702G>T | GRCh37 |
| NC_000003.10:g.182033396G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471307.6:c.-240+14593C>A | ENSP00000418702.2:n.-240+14593C>A | |
| ENST00000485055.5:n.250+14593C>A | ||
| ENST00000495817.1:n.206+37886C>A | ||
| NR_109986.1:n.250+14593C>A |