Canonical Allele Identifier: CA2686840885
Gene:

Linked Data

dbSNP Id: rs1563398408
gnomAD v4: 8-31176581-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176581G>T , CM000670.2:g.31176581G>T GRCh38
NC_000008.10:g.31034097G>T , CM000670.1:g.31034097G>T GRCh37
NC_000008.9:g.31153639G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.262G>T
XR_949643.1:n.87+111C>A
XR_949644.1:n.87+111C>A
XR_949645.1:n.87+111C>A
XR_949646.1:n.87+111C>A
XR_949647.1:n.700+111C>A
XR_949648.1:n.602+111C>A
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