Canonical Allele Identifier: CA12127796
Gene:
MyVariant.info:
GRCh38 chr5:g.7368732C>T
GRCh37 chr5:g.7368845C>T
gnomAD v2:
5:7368845 C / T
gnomAD v3:
5:7368732 C / T
gnomAD v4:
chr5-7368732-C-T
Joint Max Group AF 0.11394205 (SAS)
Genomes Max Group AF 0.11394205 (SAS)
dbSNP:
13172324
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7368732C>T , CM000667.2:g.7368732C>T GRCh38
NC_000005.9:g.7368845C>T , CM000667.1:g.7368845C>T GRCh37
NC_000005.8:g.7421845C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925756.1:n.410+701G>A
XR_925758.1:n.404+701G>A
XR_925759.1:n.410+701G>A
XR_925760.1:n.410+701G>A
XR_925761.1:n.348+701G>A
XR_925756.2:n.318+701G>A
XR_925758.2:n.312+701G>A
XR_925760.3:n.333+701G>A
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