Canonical Allele Identifier: CA12170955
Gene:
COSMIC:
COSN14762341 (not active)
MyVariant.info:
GRCh38 chr5:g.96434194G>C
GRCh37 chr5:g.95769898G>C
gnomAD v2:
5:95769898 G / C
gnomAD v3:
5:96434194 G / C
gnomAD v4:
chr5-96434194-G-C
Joint Max Group AF 0.93518059 (AFR)
Genomes Max Group AF 0.93518059 (AFR)
Exomes Max Group AF 0.55163422 (NFE)
dbSNP:
155979
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96434194G>C , CM000667.2:g.96434194G>C GRCh38
NC_000005.9:g.95769898G>C , CM000667.1:g.95769898G>C GRCh37
NC_000005.8:g.95795654G>C NCBI36
NG_021161.1:g.4088C>G

Transcript Alleles

HGVS Amino-acid Change
NR_130776.1:n.354+54542G>C
Search 100 bp 5'
Search 100 bp 3'