Canonical Allele Identifier: CA12637511
Gene:
dbSNP:
10229603
gnomAD v2:
7:112628373 T / C
gnomAD v3:
7:112988318 T / C
gnomAD v4:
chr7-112988318-T-C
Joint Max Group AF 0.40970786 (SAS)
Genomes Max Group AF 0.40970786 (SAS)
MyVariant.info:
GRCh38 chr7:g.112988318T>C
GRCh37 chr7:g.112628373T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.112988318T>C , CM000669.2:g.112988318T>C GRCh38
NC_000007.13:g.112628373T>C , CM000669.1:g.112628373T>C GRCh37
NC_000007.12:g.112415609T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110162.1:n.77-1654A>G
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