Canonical Allele Identifier: CA121722122
Gene:

Linked Data

dbSNP Id: rs1008004052
gnomAD v3: 5-79549987-G-A
gnomAD v4: 5-79549987-G-A
MyVariant Identifiers: chr5:g.78845810G>A (hg19) chr5:g.79549987G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549987G>A , CM000667.2:g.79549987G>A GRCh38
NC_000005.9:g.78845810G>A , CM000667.1:g.78845810G>A GRCh37
NC_000005.8:g.78881566G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2343G>A
XR_948498.1:n.159+2150G>A
XR_948499.1:n.67+1685G>A
XR_948497.2:n.72+2343G>A
XR_948498.2:n.159+2150G>A
XR_948499.2:n.225+1685G>A
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