Canonical Allele Identifier: CA13329213
Gene:

Linked Data

dbSNP Id: rs1570854
gnomAD v2: 10-3418124-C-T
gnomAD v3: 10-3375932-C-T
gnomAD v4: 10-3375932-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3375932C>T , CM000672.2:g.3375932C>T GRCh38
NC_000010.10:g.3418124C>T , CM000672.1:g.3418124C>T GRCh37
NC_000010.9:g.3408124C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+57076C>T