Canonical Allele Identifier:
CA220643984
Gene:
Linked Data
dbSNP Id:
rs116929070
gnomAD v2:
11-34834036-C-T
gnomAD v3:
11-34812489-C-T
gnomAD v4:
11-34812489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34812489C>T , CM000673.2:g.34812489C>T | GRCh38 |
| NC_000011.9:g.34834036C>T , CM000673.1:g.34834036C>T | GRCh37 |
| NC_000011.8:g.34790612C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428897.2:n.579+57882C>T | ||
| XR_931188.1:n.693+57882C>T | ||
| XR_931189.1:n.854+57882C>T | ||
| XR_931190.1:n.639+57882C>T | ||
| XR_931191.1:n.689+57882C>T | ||
| XR_001748174.1:n.855+57882C>T | ||
| XR_001748176.1:n.1016+57882C>T | ||
| XR_002957246.1:n.639+57882C>T |