Canonical Allele Identifier: CA595318349
Gene:

Linked Data

dbSNP Id: rs545516230

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762508G>A , CM000672.2:g.94762508G>A GRCh38
NC_000010.10:g.96522265G>A , CM000672.1:g.96522265G>A GRCh37
NC_000010.9:g.96512255G>A NCBI36
NG_008384.2:g.4803G>A
NG_008384.3:g.4828G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12550G>A ENSP00000483243.1:n.932-12550G>A