Canonical Allele Identifier:
CA15348394
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46733335 (AFR)
Genomes Max Group AF
0.46733335 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.180047278G>A , CM000666.2:g.180047278G>A | GRCh38 |
| NC_000004.11:g.180968431G>A , CM000666.1:g.180968431G>A | GRCh37 |
| NC_000004.10:g.181205425G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741480.1:n.513+12275C>T | ||
| XR_939516.2:n.513+12275C>T |