Canonical Allele Identifier:
CA1500737791
Gene:
Linked Data
dbSNP Id:
rs1733826837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559509G>A , CM000666.2:g.144559509G>A | GRCh38 |
| NC_000004.11:g.145480661G>A , CM000666.1:g.145480661G>A | GRCh37 |
| NC_000004.10:g.145700111G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-143531C>T | ENSP00000497507.1:n.328-143531C>T | |
| XR_939272.1:n.178+2475C>T | ||
| XR_939273.1:n.178+2475C>T | ||
| XR_939272.2:n.522+2475C>T | ||
| XR_939273.2:n.522+2475C>T |