Canonical Allele Identifier: CA732115493
Gene:

Linked Data

dbSNP Id: rs867764114
gnomAD v3: 1-224068682-T-C
gnomAD v4: 1-224068682-T-C
MyVariant Identifiers: chr1:g.224256384T>C (hg19) chr1:g.224068682T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068682T>C , CM000663.2:g.224068682T>C GRCh38
NC_000001.10:g.224256384T>C , CM000663.1:g.224256384T>C GRCh37
NC_000001.9:g.222323007T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+1028T>C
XR_001737824.1:n.242+1028T>C
Search 100 bp 5'
Search 100 bp 3'