Canonical Allele Identifier: CA1068370732
Gene:

Linked Data

dbSNP Id: rs1728164898
gnomAD v3: 4-134601449-C-T
gnomAD v4: 4-134601449-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134601449C>T , CM000666.2:g.134601449C>T GRCh38
NC_000004.11:g.135522604C>T , CM000666.1:g.135522604C>T GRCh37
NC_000004.10:g.135742054C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939212.1:n.410+14090C>T
XR_939214.1:n.392+14090C>T
XR_939214.2:n.392+14090C>T
Search 100 bp 5'
Search 100 bp 3'