Canonical Allele Identifier: CA735235279
Gene:

Linked Data

dbSNP Id: rs1163375637
gnomAD v3: 1-34523553-C-T
gnomAD v4: 1-34523553-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523553C>T , CM000663.2:g.34523553C>T GRCh38
NC_000001.10:g.34989154C>T , CM000663.1:g.34989154C>T GRCh37
NC_000001.9:g.34761741C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947171.1:n.1073+24026G>A
XR_001737964.1:n.991+24026G>A