Canonical Allele Identifier: CA13952047
Gene:
gnomAD v2:
14:105235558 T / C
gnomAD v3:
14:104769221 T / C
gnomAD v4:
chr14-104769221-T-C
Joint Max Group AF 0.58554721 (EAS)
Genomes Max Group AF 0.61407207 (EAS)
Exomes Max Group AF 0.5572837 (EAS)
dbSNP:
2498801
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104769221T>C , CM000676.2:g.104769221T>C GRCh38
NC_000014.8:g.105235558T>C , CM000676.1:g.105235558T>C GRCh37
NC_000014.7:g.104306603T>C NCBI36
NG_012188.1:g.31524A>G , LRG_721:g.31524A>G

Transcript Alleles

HGVS Amino-acid Change
XR_429419.2:n.871T>C
XR_429419.4:n.2106T>C
Search 100 bp 5'
Search 100 bp 3'