Canonical Allele Identifier: CA12055732
Gene:

Linked Data

dbSNP Id: rs6899277
gnomAD v2: 5-78845631-T-C
gnomAD v3: 5-79549808-T-C
gnomAD v4: 5-79549808-T-C
MyVariant Identifiers: chr5:g.78845631T>C (hg19) chr5:g.79549808T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549808T>C , CM000667.2:g.79549808T>C GRCh38
NC_000005.9:g.78845631T>C , CM000667.1:g.78845631T>C GRCh37
NC_000005.8:g.78881387T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2164T>C
XR_948498.1:n.159+1971T>C
XR_948499.1:n.67+1506T>C
XR_948497.2:n.72+2164T>C
XR_948498.2:n.159+1971T>C
XR_948499.2:n.225+1506T>C
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