Canonical Allele Identifier: CA154393479
Gene:

Linked Data

dbSNP Id: rs1027830683
gnomAD v2: 7-13440266-T-C
gnomAD v3: 7-13400641-T-C
gnomAD v4: 7-13400641-T-C
MyVariant Identifiers: chr7:g.13440266T>C (hg19) chr7:g.13400641T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400641T>C , CM000669.2:g.13400641T>C GRCh38
NC_000007.13:g.13440266T>C , CM000669.1:g.13440266T>C GRCh37
NC_000007.12:g.13406791T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90318T>C
Search 100 bp 5'
Search 100 bp 3'