Canonical Allele Identifier: CA12341652
Gene:
MyVariant.info:
GRCh38 chr6:g.166969587G>A
GRCh37 chr6:g.167383075G>A
gnomAD v2:
6:167383075 G / A
gnomAD v3:
6:166969587 G / A
gnomAD v4:
chr6-166969587-G-A
Joint Max Group AF 0.58369565 (SAS)
Genomes Max Group AF 0.58369565 (SAS)
Exomes Max Group AF 0.08710044 (NFE)
dbSNP:
9355610
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166969587G>A , CM000668.2:g.166969587G>A GRCh38
NC_000006.11:g.167383075G>A , CM000668.1:g.167383075G>A GRCh37
NC_000006.10:g.167303065G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943243.1:n.802+39C>T
XR_943244.1:n.3666+39C>T
XR_943245.1:n.3324+39C>T
XR_943246.1:n.398+39C>T
XR_943248.1:n.3262+39C>T
XR_943243.2:n.2885+39C>T
XR_943244.2:n.3666+39C>T
XR_943245.2:n.3327+39C>T
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