Canonical Allele Identifier: CA162129206
Gene:

Linked Data

dbSNP Id: rs6966264
gnomAD v2: 7-87543037-C-G
gnomAD v3: 7-87913722-C-G
gnomAD v4: 7-87913722-C-G
MyVariant Identifiers: chr7:g.87543037C>G (hg19) chr7:g.87913722C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87913722C>G , CM000669.2:g.87913722C>G GRCh38
NC_000007.13:g.87543037C>G , CM000669.1:g.87543037C>G GRCh37
NC_000007.12:g.87380973C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927723.1:n.148+179G>C
XR_927724.1:n.192+179G>C
Search 100 bp 5'
Search 100 bp 3'