Canonical Allele Identifier:
CA11973172
Gene:
Linked Data
dbSNP Id:
rs13358260
gnomAD v2:
5-78845711-T-C
gnomAD v3:
5-79549888-T-C
gnomAD v4:
5-79549888-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79549888T>C , CM000667.2:g.79549888T>C | GRCh38 |
| NC_000005.9:g.78845711T>C , CM000667.1:g.78845711T>C | GRCh37 |
| NC_000005.8:g.78881467T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948497.1:n.72+2244T>C | ||
| XR_948498.1:n.159+2051T>C | ||
| XR_948499.1:n.67+1586T>C | ||
| XR_948497.2:n.72+2244T>C | ||
| XR_948498.2:n.159+2051T>C | ||
| XR_948499.2:n.225+1586T>C |