Canonical Allele Identifier:
CA1557963312
Gene:
Linked Data
dbSNP Id:
rs1753643962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79549804C>T , CM000667.2:g.79549804C>T | GRCh38 |
| NC_000005.9:g.78845627C>T , CM000667.1:g.78845627C>T | GRCh37 |
| NC_000005.8:g.78881383C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948497.1:n.72+2160C>T | ||
| XR_948498.1:n.159+1967C>T | ||
| XR_948499.1:n.67+1502C>T | ||
| XR_948497.2:n.72+2160C>T | ||
| XR_948498.2:n.159+1967C>T | ||
| XR_948499.2:n.225+1502C>T |