Canonical Allele Identifier:
CA1818149185
Gene:
Linked Data
dbSNP Id:
rs1814933620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126999302T>C , CM000670.2:g.126999302T>C | GRCh38 |
| NC_000008.10:g.128011547T>C , CM000670.1:g.128011547T>C | GRCh37 |
| NC_000008.9:g.128080729T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746076.2:n.1301-7253T>C |