Canonical Allele Identifier: CA2246165552
Gene:

Linked Data

dbSNP Id: rs1981886929
gnomAD v3: 17-8137246-C-T
gnomAD v4: 17-8137246-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137246C>T , CM000679.2:g.8137246C>T GRCh38
NC_000017.10:g.8040564C>T , CM000679.1:g.8040564C>T GRCh37
NC_000017.9:g.7981289C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1603C>T
XR_934203.1:n.70-2231C>T
XR_934202.2:n.414-1603C>T
Search 100 bp 5'
Search 100 bp 3'