Canonical Allele Identifier:
CA1480021914
Gene:
Linked Data
dbSNP Id:
rs1722559972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99474221C>A , CM000666.2:g.99474221C>A | GRCh38 |
| NC_000004.11:g.100395378C>A , CM000666.1:g.100395378C>A | GRCh37 |
| NC_000004.10:g.100614401C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506494.1:n.243-2359G>T |