Canonical Allele Identifier: CA12881894
Gene:

Linked Data

dbSNP Id: rs10448044
gnomAD v2: 8-80103432-T-C
gnomAD v3: 8-79191197-T-C
gnomAD v4: 8-79191197-T-C
MyVariant Identifiers: chr8:g.80103432T>C (hg19) chr8:g.79191197T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191197T>C , CM000670.2:g.79191197T>C GRCh38
NC_000008.10:g.80103432T>C , CM000670.1:g.80103432T>C GRCh37
NC_000008.9:g.80265987T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745720.1:n.105+826T>C
Search 100 bp 5'
Search 100 bp 3'