Canonical Allele Identifier: CA522076180
Gene:

Linked Data

dbSNP Id: rs1171527845
gnomAD v2: 1-34989155-C-T
gnomAD v3: 1-34523554-C-T
gnomAD v4: 1-34523554-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523554C>T , CM000663.2:g.34523554C>T GRCh38
NC_000001.10:g.34989155C>T , CM000663.1:g.34989155C>T GRCh37
NC_000001.9:g.34761742C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947171.1:n.1073+24025G>A
XR_001737964.1:n.991+24025G>A