Canonical Allele Identifier:
CA12739905
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41440999 (AFR)
Genomes Max Group AF
0.41440999 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128180025T>C , CM000670.2:g.128180025T>C | GRCh38 |
| NC_000008.10:g.129192271T>C , CM000670.1:g.129192271T>C | GRCh37 |
| NC_000008.9:g.129261453T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928641.1:n.861-6531T>C |