Canonical Allele Identifier: CA772782718
Gene:

Linked Data

dbSNP Id: rs1444726542
gnomAD v3: 17-50211794-T-C
gnomAD v4: 17-50211794-T-C
MyVariant Identifiers: chr17:g.48289155T>C (hg19) chr17:g.50211794T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50211794T>C , CM000679.2:g.50211794T>C GRCh38
NC_000017.10:g.48289155T>C , CM000679.1:g.48289155T>C GRCh37
NC_000017.9:g.45644154T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934838.1:n.43-2041T>C
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