Canonical Allele Identifier: CA10655389
Gene:
COSMIC:
COSN6436350 (not active)
MyVariant.info:
GRCh38 chr1:g.2036515C>T
GRCh37 chr1:g.1967954C>T
gnomAD v2:
1:1967954 C / T
gnomAD v3:
1:2036515 C / T
gnomAD v4:
chr1-2036515-C-T
Joint Max Group AF 0.72256857 (EAS)
Genomes Max Group AF 0.72256857 (EAS)
dbSNP:
2376803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2036515C>T , CM000663.2:g.2036515C>T GRCh38
NC_000001.10:g.1967954C>T , CM000663.1:g.1967954C>T GRCh37
NC_000001.9:g.1957814C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946823.1:n.693G>A
XR_001737845.2:n.696G>A
XR_946823.3:n.696G>A
Search 100 bp 5'
Search 100 bp 3'