Canonical Allele Identifier: CA13449341
Gene:
gnomAD v2:
11:112034988 C / G
gnomAD v3:
11:112164265 C / G
gnomAD v4:
chr11-112164265-C-G
Joint Max Group AF 0.29169896 (AMR)
Genomes Max Group AF 0.29169896 (AMR)
Exomes Max Group AF 0.05840605 (NFE)
dbSNP:
187238
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164265C>G , CM000673.2:g.112164265C>G GRCh38
NC_000011.9:g.112034988C>G , CM000673.1:g.112034988C>G GRCh37
NC_000011.8:g.111540198C>G NCBI36
NG_028143.1:g.4853G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-6154C>G
ENST00000531744.5:c.315-6154C>G ENSP00000456957.1:n.315-6154C>G
ENST00000532699.1:c.315-6154C>G ENSP00000456434.1:n.315-6154C>G
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