Canonical Allele Identifier: CA2346122820
Gene:

Linked Data

dbSNP Id: rs1600005533

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2471018G>A , CM000682.2:g.2471018G>A GRCh38
NC_000020.10:g.2451664G>A , CM000682.1:g.2451664G>A GRCh37
NC_000020.9:g.2399664G>A NCBI36
NG_042057.1:g.4836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3260C>T ENSP00000456213.1:n.305-3260C>T