Canonical Allele Identifier: CA15694260
Gene:

Linked Data

ClinVar Variation Id: 1180586
dbSNP Id: rs1791688

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510588C>G , CM000673.2:g.66510588C>G GRCh38
NC_000011.9:g.66278059C>G , CM000673.1:g.66278059C>G GRCh37
NC_000011.8:g.66034635C>G NCBI36
NG_009093.1:g.4941C>G
NG_032068.1:g.35180C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419755.3:c.159-425C>G ENSP00000398526.3:n.159-425C>G