Canonical Allele Identifier: CA741768353
Gene:

Linked Data

dbSNP Id: rs1451940286
gnomAD v3: 20-1875475-C-T
gnomAD v4: 20-1875475-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1875475C>T , CM000682.2:g.1875475C>T GRCh38
NC_000020.10:g.1856121C>T , CM000682.1:g.1856121C>T GRCh37
NC_000020.9:g.1804121C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001754467.1:n.433-7382G>A