Canonical Allele Identifier: CA1694877517
Gene:

Linked Data

dbSNP Id: rs1787633052
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291892C>T , CM000669.2:g.24291892C>T GRCh38
NC_000007.13:g.24331511C>T , CM000669.1:g.24331511C>T GRCh37
NC_000007.12:g.24298036C>T NCBI36
NG_016148.1:g.12705C>T

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27465G>A XP_016868399.1:n.41+27465G>A
XM_017012911.1:c.41+27465G>A XP_016868400.1:n.41+27465G>A
XR_001745121.1:n.473+27465G>A
XR_001745122.1:n.345-94863G>A
XR_001745123.1:n.473+27465G>A
XR_001745124.1:n.473+27465G>A
XR_001745125.1:n.473+27465G>A
XR_001745126.1:n.473+27465G>A
XR_001745127.1:n.345-36193G>A
XR_001745129.1:n.473+27465G>A
XR_001745130.1:n.473+27465G>A
XR_001745131.1:n.473+27465G>A
XR_001745132.1:n.473+27465G>A
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