Canonical Allele Identifier:
CA13492253
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29489525 (AMR)
Genomes Max Group AF
0.29489525 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112165426A>G , CM000673.2:g.112165426A>G | GRCh38 |
| NC_000011.9:g.112036149A>G , CM000673.1:g.112036149A>G | GRCh37 |
| NC_000011.8:g.111541359A>G | NCBI36 |
| NG_028143.1:g.3692T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525987.5:n.320-4993A>G | ||
| ENST00000531744.5:c.315-4993A>G | ENSP00000456957.1:n.315-4993A>G | |
| ENST00000532699.1:c.315-4993A>G | ENSP00000456434.1:n.315-4993A>G | |
| XR_001748384.1:n.247T>C |