Canonical Allele Identifier:
CA13440502
Gene:
Linked Data
dbSNP Id:
rs12793173
gnomAD v2:
11-34834204-T-C
gnomAD v3:
11-34812657-T-C
gnomAD v4:
11-34812657-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34812657T>C , CM000673.2:g.34812657T>C | GRCh38 |
| NC_000011.9:g.34834204T>C , CM000673.1:g.34834204T>C | GRCh37 |
| NC_000011.8:g.34790780T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_428897.2:n.579+58050T>C | ||
| XR_931188.1:n.693+58050T>C | ||
| XR_931189.1:n.854+58050T>C | ||
| XR_931190.1:n.639+58050T>C | ||
| XR_931191.1:n.689+58050T>C | ||
| XR_001748174.1:n.855+58050T>C | ||
| XR_001748176.1:n.1016+58050T>C | ||
| XR_002957246.1:n.639+58050T>C |