Canonical Allele Identifier: CA181547504
Gene:

Linked Data

dbSNP Id: rs910505110
gnomAD v3: 8-88535747-A-T
gnomAD v4: 8-88535747-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535747A>T , CM000670.2:g.88535747A>T GRCh38
NC_000008.10:g.89547976A>T , CM000670.1:g.89547976A>T GRCh37
NC_000008.9:g.89617092A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745651.2:n.1673+10770T>A
XR_001745653.2:n.286-6933A>T
XR_928383.3:n.1475+10770T>A