Canonical Allele Identifier:
CA2493232085
Gene:
Linked Data
dbSNP Id:
rs1573142262
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20485688C>T , CM000664.2:g.20485688C>T | GRCh38 |
| NC_000002.11:g.20685449C>T , CM000664.1:g.20685449C>T | GRCh37 |
| NC_000002.10:g.20548930C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_157978.1:n.530+3050G>A |