Canonical Allele Identifier: CA133338137
Gene:
MyVariant.info:
GRCh38 chr6:g.457748C>T
GRCh37 chr6:g.457748C>T
gnomAD v3:
6:457748 C / T
gnomAD v4:
chr6-457748-C-T
Joint Max Group AF 0.00001924 (AFR)
Genomes Max Group AF 0.00001924 (AFR)
dbSNP:
4959270
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.457748C>T , CM000668.2:g.457748C>T GRCh38
NC_000006.11:g.457748C>T , CM000668.1:g.457748C>T GRCh37
NC_000006.10:g.402748C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+4023C>T
XR_926365.1:n.2548+4023C>T
XR_001743914.1:n.481+6089C>T
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