Canonical Allele Identifier: CA731778842
Gene:

Linked Data

dbSNP Id: rs1251228613
MyVariant Identifiers: chr1:g.220664998T>C (hg19) chr1:g.220491656T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220491656T>C , CM000663.2:g.220491656T>C GRCh38
NC_000001.10:g.220664998T>C , CM000663.1:g.220664998T>C GRCh37
NC_000001.9:g.218731621T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922615.1:n.256-578T>C
XR_001737822.1:n.557-578T>C
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