Canonical Allele Identifier: CA15421251
Gene:
MyVariant.info:
GRCh38 chr5:g.6852487C>T
GRCh37 chr5:g.6852600C>T
gnomAD v2:
5:6852600 C / T
gnomAD v3:
5:6852487 C / T
gnomAD v4:
chr5-6852487-C-T
Joint Max Group AF 0.86093701 (EAS)
Genomes Max Group AF 0.86093701 (EAS)
dbSNP:
275490
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6852487C>T , CM000667.2:g.6852487C>T GRCh38
NC_000005.9:g.6852600C>T , CM000667.1:g.6852600C>T GRCh37
NC_000005.8:g.6905600C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742496.1:n.284+5483C>T
Search 100 bp 5'
Search 100 bp 3'