Canonical Allele Identifier: CA11918629
Gene:
MyVariant.info:
GRCh38 chr5:g.5354502T>C
GRCh37 chr5:g.5354615T>C
gnomAD v2:
5:5354615 T / C
gnomAD v3:
5:5354502 T / C
gnomAD v4:
chr5-5354502-T-C
Joint Max Group AF 0.40290598 (AFR)
Genomes Max Group AF 0.40290598 (AFR)
dbSNP:
7723605
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.5354502T>C , CM000667.2:g.5354502T>C GRCh38
NC_000005.9:g.5354615T>C , CM000667.1:g.5354615T>C GRCh37
NC_000005.8:g.5407615T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742582.2:n.1073-34724A>G
XR_001742583.2:n.1080-34724A>G
XR_001742585.2:n.1071-60828A>G
XR_001742586.2:n.1080-60828A>G
XR_001742587.2:n.1071-15822A>G
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