Canonical Allele Identifier:
CA2707428804
Gene:
Linked Data
dbSNP Id:
rs2126511083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559619G>A , CM000666.2:g.144559619G>A | GRCh38 |
| NC_000004.11:g.145480771G>A , CM000666.1:g.145480771G>A | GRCh37 |
| NC_000004.10:g.145700221G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-143641C>T | ENSP00000497507.1:n.328-143641C>T | |
| XR_939272.1:n.178+2365C>T | ||
| XR_939273.1:n.178+2365C>T | ||
| XR_939272.2:n.522+2365C>T | ||
| XR_939273.2:n.522+2365C>T |