Canonical Allele Identifier:
CA1283225712
Gene:
Linked Data
dbSNP Id:
rs13401620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.119755557G>C , CM000664.2:g.119755557G>C | GRCh38 |
| NC_000002.11:g.120513133G>C , CM000664.1:g.120513133G>C | GRCh37 |
| NC_000002.10:g.120229603G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011512306.1:c.582+4075C>G | XP_011510608.1:n.582+4075C>G | |
| XR_001739667.2:n.597+4075C>G | ||
| XR_001739676.1:n.54+4890C>G | ||
| XR_001739677.2:n.597+4075C>G |