Canonical Allele Identifier: CA12586286
Gene:

Linked Data

dbSNP Id: rs12701937
gnomAD v2: 7-41821917-C-T
gnomAD v3: 7-41782319-C-T
gnomAD v4: 7-41782319-C-T
MyVariant Identifiers: chr7:g.41821917C>T (hg19) chr7:g.41782319C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41782319C>T , CM000669.2:g.41782319C>T GRCh38
NC_000007.13:g.41821917C>T , CM000669.1:g.41821917C>T GRCh37
NC_000007.12:g.41788442C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745185.1:n.964+46605C>T
XR_001745186.1:n.954+46615C>T
Search 100 bp 5'
Search 100 bp 3'