Canonical Allele Identifier:
CA220638165
Gene:
Linked Data
dbSNP Id:
rs10466455
gnomAD v2:
11-34780936-T-C
gnomAD v3:
11-34759389-T-C
gnomAD v4:
11-34759389-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34759389T>C , CM000673.2:g.34759389T>C | GRCh38 |
| NC_000011.9:g.34780936T>C , CM000673.1:g.34780936T>C | GRCh37 |
| NC_000011.8:g.34737512T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_428897.2:n.579+4782T>C | ||
| XR_931188.1:n.693+4782T>C | ||
| XR_931189.1:n.854+4782T>C | ||
| XR_931190.1:n.639+4782T>C | ||
| XR_931191.1:n.689+4782T>C | ||
| XR_001748174.1:n.855+4782T>C | ||
| XR_001748176.1:n.1016+4782T>C | ||
| XR_002957246.1:n.639+4782T>C |