Canonical Allele Identifier: CA775632408
Gene:

Linked Data

dbSNP Id: rs1247309266
gnomAD v3: 17-8137744-A-T
gnomAD v4: 17-8137744-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137744A>T , CM000679.2:g.8137744A>T GRCh38
NC_000017.10:g.8041062A>T , CM000679.1:g.8041062A>T GRCh37
NC_000017.9:g.7981787A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1105A>T
XR_934203.1:n.70-1733A>T
XR_934202.2:n.414-1105A>T