Canonical Allele Identifier: CA14394864
Gene:
COSMIC:
COSN6661835 (not active)
MyVariant.info:
GRCh38 chr17:g.8136976A>G
GRCh37 chr17:g.8040294A>G
gnomAD v2:
17:8040294 A / G
gnomAD v3:
17:8136976 A / G
gnomAD v4:
chr17-8136976-A-G
Joint Max Group AF 0.4158217 (NFE)
Genomes Max Group AF 0.4158217 (NFE)
dbSNP:
9914077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8136976A>G , CM000679.2:g.8136976A>G GRCh38
NC_000017.10:g.8040294A>G , CM000679.1:g.8040294A>G GRCh37
NC_000017.9:g.7981019A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1873A>G
XR_934203.1:n.70-2501A>G
XR_934202.2:n.414-1873A>G
Search 100 bp 5'
Search 100 bp 3'