Canonical Allele Identifier: CA1689284550
Gene:

Linked Data

dbSNP Id: rs1780381105
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13514138G>T , CM000669.2:g.13514138G>T GRCh38
NC_000007.13:g.13553763G>T , CM000669.1:g.13553763G>T GRCh37
NC_000007.12:g.13520288G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.148-188178G>T
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Search 100 bp 3'