Canonical Allele Identifier: CA663940245
Gene:

Linked Data

dbSNP Id: rs1436777798
gnomAD v3: 10-3366785-G-A
gnomAD v4: 10-3366785-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366785G>A , CM000672.2:g.3366785G>A GRCh38
NC_000010.10:g.3408977G>A , CM000672.1:g.3408977G>A GRCh37
NC_000010.9:g.3398977G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47929G>A