Canonical Allele Identifier: CA775632402
Gene:

Linked Data

dbSNP Id: rs1254598006
gnomAD v3: 17-8137718-C-T
gnomAD v4: 17-8137718-C-T
MyVariant Identifiers: chr17:g.8041036C>T (hg19) chr17:g.8137718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137718C>T , CM000679.2:g.8137718C>T GRCh38
NC_000017.10:g.8041036C>T , CM000679.1:g.8041036C>T GRCh37
NC_000017.9:g.7981761C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_934202.1:n.183-1131C>T
XR_934203.1:n.70-1759C>T
XR_934202.2:n.414-1131C>T
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