Canonical Allele Identifier: CA15571236
Gene:
MyVariant.info:
GRCh38 chr8:g.9327636T>C
GRCh37 chr8:g.9185146T>C
gnomAD v2:
8:9185146 T / C
gnomAD v3:
8:9327636 T / C
gnomAD v4:
chr8-9327636-T-C
Joint Max Group AF 0.96468801 (EAS)
Genomes Max Group AF 0.96468801 (EAS)
dbSNP:
2126259
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9327636T>C , CM000670.2:g.9327636T>C GRCh38
NC_000008.10:g.9185146T>C , CM000670.1:g.9185146T>C GRCh37
NC_000008.9:g.9222556T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040039.1:n.765+1333T>C
Search 100 bp 5'
Search 100 bp 3'