Canonical Allele Identifier: CA14017692
Gene:
MyVariant.info:
GRCh38 chr14:g.22013585A>C
GRCh37 chr14:g.22481824A>C
gnomAD v2:
14:22481824 A / C
gnomAD v3:
14:22013585 A / C
gnomAD v4:
chr14-22013585-A-C
Joint Max Group AF 0.1888542 (AFR)
Genomes Max Group AF 0.18886803 (AFR)
Exomes Max Group AF 0.056929 (AFR)
dbSNP:
3811321
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22013585A>C , CM000676.2:g.22013585A>C GRCh38
NC_000014.8:g.22481824A>C , CM000676.1:g.22481824A>C GRCh37
NC_000014.7:g.21551664A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553572.2:n.1676A>C
Search 100 bp 5'
Search 100 bp 3'