Canonical Allele Identifier: CA1557963322
Gene:

Linked Data

dbSNP Id: rs1753644407
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549809T>C , CM000667.2:g.79549809T>C GRCh38
NC_000005.9:g.78845632T>C , CM000667.1:g.78845632T>C GRCh37
NC_000005.8:g.78881388T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2165T>C
XR_948498.1:n.159+1972T>C
XR_948499.1:n.67+1507T>C
XR_948497.2:n.72+2165T>C
XR_948498.2:n.159+1972T>C
XR_948499.2:n.225+1507T>C
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