Canonical Allele Identifier: CA14548488
Gene:
COSMIC:
COSN17133533 (not active)
COSN17134340 (not active)
COSN17137071 (not active)
COSN17138078 (not active)
COSN17139881 (not active)
COSN17140733 (not active)
COSN17146552 (not active)
COSN17147415 (not active)
COSN17150130 (not active)
MyVariant.info:
GRCh38 chr18:g.45145697A>G
GRCh37 chr18:g.42725662A>G
gnomAD v2:
18:42725662 A / G
gnomAD v3:
18:45145697 A / G
gnomAD v4:
chr18-45145697-A-G
Joint Max Group AF 0.1723609 (NFE)
Genomes Max Group AF 0.1723609 (NFE)
dbSNP:
998124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45145697A>G , CM000680.2:g.45145697A>G GRCh38
NC_000018.9:g.42725662A>G , CM000680.1:g.42725662A>G GRCh37
NC_000018.8:g.40979660A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935420.1:n.195+4443T>C
XR_935421.1:n.195+4443T>C
XR_935421.2:n.242+4443T>C
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