Canonical Allele Identifier: CA996829030
Gene:

Linked Data

dbSNP Id: rs2090051350
gnomAD v3: 19-50837867-A-C
gnomAD v4: 19-50837867-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837867A>C , CM000681.2:g.50837867A>C GRCh38
NC_000019.9:g.51341123A>C , CM000681.1:g.51341123A>C GRCh37
NC_000019.8:g.56032935A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6574A>C
NR_131205.1:n.230+6574A>C
XR_936030.1:n.298+6574A>C
XR_936031.1:n.298+6574A>C
XR_936032.1:n.298+6574A>C
XR_936033.1:n.294+6574A>C
XR_936035.1:n.281+6574A>C
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