Canonical Allele Identifier: CA529370095
Gene:

Linked Data

dbSNP Id: rs1427094015
gnomAD v2: 1-224256353-T-C
gnomAD v3: 1-224068651-T-C
gnomAD v4: 1-224068651-T-C
MyVariant Identifiers: chr1:g.224256353T>C (hg19) chr1:g.224068651T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068651T>C , CM000663.2:g.224068651T>C GRCh38
NC_000001.10:g.224256353T>C , CM000663.1:g.224256353T>C GRCh37
NC_000001.9:g.222322976T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+997T>C
XR_001737824.1:n.242+997T>C
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