Canonical Allele Identifier:
CA327916553
Gene:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0052366 (NFE)
Genomes Max Group AF
0.0052366 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352331A>G , CM000685.2:g.38352331A>G | GRCh38 |
| NC_000023.10:g.38211584A>G , CM000685.1:g.38211584A>G | GRCh37 |
| NC_000023.9:g.38096528A>G | NCBI36 |
| NG_008471.1:g.4849A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465127.1:c.172-313790A>G | ENSP00000417050.1:n.172-313790A>G |