Canonical Allele Identifier: CA2727598463
Gene:

Linked Data

dbSNP Id: rs2136272135
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529598G>A , CM000674.2:g.131529598G>A GRCh38
NC_000012.11:g.132014143G>A , CM000674.1:g.132014143G>A GRCh37
NC_000012.10:g.130580096G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+177C>T
XR_001749407.2:n.1067+177C>T
Search 100 bp 5'
Search 100 bp 3'