Canonical Allele Identifier:
CA1557963304
Gene:
Linked Data
dbSNP Id:
rs1753643874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79549802T>C , CM000667.2:g.79549802T>C | GRCh38 |
| NC_000005.9:g.78845625T>C , CM000667.1:g.78845625T>C | GRCh37 |
| NC_000005.8:g.78881381T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948497.1:n.72+2158T>C | ||
| XR_948498.1:n.159+1965T>C | ||
| XR_948499.1:n.67+1500T>C | ||
| XR_948497.2:n.72+2158T>C | ||
| XR_948498.2:n.159+1965T>C | ||
| XR_948499.2:n.225+1500T>C |