Canonical Allele Identifier: CA1595159287
Gene:

Linked Data

dbSNP Id: rs1386965165
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580856G>A , CM000667.2:g.159580856G>A GRCh38
NC_000005.9:g.159007864G>A , CM000667.1:g.159007864G>A GRCh37
NC_000005.8:g.158940442G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+421G>A
XR_941140.1:n.2075+421G>A
XR_941141.1:n.570+421G>A
XR_941139.2:n.2229+421G>A
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