Canonical Allele Identifier: CA202037802
Gene:

Linked Data

dbSNP Id: rs1044047722
gnomAD v3: 10-3366841-G-T
gnomAD v4: 10-3366841-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366841G>T , CM000672.2:g.3366841G>T GRCh38
NC_000010.10:g.3409033G>T , CM000672.1:g.3409033G>T GRCh37
NC_000010.9:g.3399033G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47985G>T