Canonical Allele Identifier: CA15296048
Gene:
COSMIC:
COSN6573333 (not active)
MyVariant.info:
GRCh38 chr3:g.188022735T>C
GRCh37 chr3:g.187740523T>C
gnomAD v2:
3:187740523 T / C
gnomAD v3:
3:188022735 T / C
gnomAD v4:
chr3-188022735-T-C
Joint Max Group AF 0.97209648 (EAS)
Genomes Max Group AF 0.97209648 (EAS)
dbSNP:
6808574
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.188022735T>C , CM000665.2:g.188022735T>C GRCh38
NC_000003.11:g.187740523T>C , CM000665.1:g.187740523T>C GRCh37
NC_000003.10:g.189223217T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741061.1:n.163-18747A>G
Search 100 bp 5'
Search 100 bp 3'