Canonical Allele Identifier:
CA122364563
Gene:
Linked Data
dbSNP Id:
rs10514279
gnomAD v2:
5-85707469-C-T
gnomAD v3:
5-86411652-C-T
gnomAD v4:
5-86411652-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.86411652C>T , CM000667.2:g.86411652C>T | GRCh38 |
| NC_000005.9:g.85707469C>T , CM000667.1:g.85707469C>T | GRCh37 |
| NC_000005.8:g.85743225C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948534.1:n.456-1496G>A | ||
| XR_948535.1:n.456-1496G>A | ||
| XR_948536.1:n.376-1496G>A | ||
| XR_948537.1:n.455+13730G>A | ||
| XR_001742789.1:n.602-1496G>A | ||
| XR_948535.2:n.682-1496G>A | ||
| XR_948537.2:n.681+13730G>A |