Canonical Allele Identifier:
CA102639024
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62450969 (NFE)
Genomes Max Group AF
0.62450969 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99475533G>T , CM000666.2:g.99475533G>T | GRCh38 |
| NC_000004.11:g.100396690G>T , CM000666.1:g.100396690G>T | GRCh37 |
| NC_000004.10:g.100615713G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506494.1:n.242+1215C>A |