Canonical Allele Identifier: CA14743768
Gene:
MyVariant.info:
GRCh38 chr19:g.21483408C>T
GRCh37 chr19:g.21666210C>T
gnomAD v2:
19:21666210 C / T
gnomAD v3:
19:21483408 C / T
gnomAD v4:
chr19-21483408-C-T
Joint Max Group AF 0.83960544 (AFR)
Genomes Max Group AF 0.83959777 (AFR)
Exomes Max Group AF 0.71227508 (NFE)
dbSNP:
2562456
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.21483408C>T , CM000681.2:g.21483408C>T GRCh38
NC_000019.9:g.21666210C>T , CM000681.1:g.21666210C>T GRCh37
NC_000019.8:g.21458050C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600810.1:c.197-6257C>T ENSP00000473166.1:n.197-6257C>T
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