Canonical Allele Identifier: CA560694578
Gene:

Linked Data

dbSNP Id: rs1485110645
gnomAD v2: 5-78845772-C-T
gnomAD v3: 5-79549949-C-T
gnomAD v4: 5-79549949-C-T
MyVariant Identifiers: chr5:g.78845772C>T (hg19) chr5:g.79549949C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549949C>T , CM000667.2:g.79549949C>T GRCh38
NC_000005.9:g.78845772C>T , CM000667.1:g.78845772C>T GRCh37
NC_000005.8:g.78881528C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2305C>T
XR_948498.1:n.159+2112C>T
XR_948499.1:n.67+1647C>T
XR_948497.2:n.72+2305C>T
XR_948498.2:n.159+2112C>T
XR_948499.2:n.225+1647C>T
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