Canonical Allele Identifier: CA180189147
Gene:

Linked Data

dbSNP Id: rs1021156
gnomAD v2: 8-79575804-T-C
gnomAD v3: 8-78663569-T-C
gnomAD v4: 8-78663569-T-C
MyVariant Identifiers: chr8:g.79575804T>C (hg19) chr8:g.78663569T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.78663569T>C , CM000670.2:g.78663569T>C GRCh38
NC_000008.10:g.79575804T>C , CM000670.1:g.79575804T>C GRCh37
NC_000008.9:g.79738359T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929074.1:n.975+1436A>G
XR_001745972.1:n.963+1436A>G
Search 100 bp 5'
Search 100 bp 3'