Canonical Allele Identifier:
CA2763875384
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559592C>A , CM000666.2:g.144559592C>A | GRCh38 |
| NC_000004.11:g.145480744C>A , CM000666.1:g.145480744C>A | GRCh37 |
| NC_000004.10:g.145700194C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649263.1:c.328-143614G>T | ENSP00000497507.1:n.328-143614G>T | |
| XR_939272.1:n.178+2392G>T | ||
| XR_939273.1:n.178+2392G>T | ||
| XR_939272.2:n.522+2392G>T | ||
| XR_939273.2:n.522+2392G>T |