Canonical Allele Identifier:
CA12200578
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42045179 (AMR)
Genomes Max Group AF
0.42045179 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.90708033G>T , CM000668.2:g.90708033G>T | GRCh38 |
| NC_000006.11:g.91417752G>T , CM000668.1:g.91417752G>T | GRCh37 |
| NC_000006.10:g.91474473G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744259.1:n.1243+46531G>T |