Canonical Allele Identifier:
CA1963376019
Gene:
Linked Data
dbSNP Id:
rs1851018318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34759414G>C , CM000673.2:g.34759414G>C | GRCh38 |
| NC_000011.9:g.34780961G>C , CM000673.1:g.34780961G>C | GRCh37 |
| NC_000011.8:g.34737537G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428897.2:n.579+4807G>C | ||
| XR_931188.1:n.693+4807G>C | ||
| XR_931189.1:n.854+4807G>C | ||
| XR_931190.1:n.639+4807G>C | ||
| XR_931191.1:n.689+4807G>C | ||
| XR_001748174.1:n.855+4807G>C | ||
| XR_001748176.1:n.1016+4807G>C | ||
| XR_002957246.1:n.639+4807G>C |