Canonical Allele Identifier: CA121722129
Gene:

Linked Data

dbSNP Id: rs561447912
gnomAD v3: 5-79550073-A-G
gnomAD v4: 5-79550073-A-G
MyVariant Identifiers: chr5:g.78845896A>G (hg19) chr5:g.79550073A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79550073A>G , CM000667.2:g.79550073A>G GRCh38
NC_000005.9:g.78845896A>G , CM000667.1:g.78845896A>G GRCh37
NC_000005.8:g.78881652A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2429A>G
XR_948498.1:n.159+2236A>G
XR_948499.1:n.67+1771A>G
XR_948497.2:n.72+2429A>G
XR_948498.2:n.159+2236A>G
XR_948499.2:n.225+1771A>G
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