Canonical Allele Identifier: CA996829044
Gene:

Linked Data

dbSNP Id: rs2090051394
gnomAD v3: 19-50837883-T-C
gnomAD v4: 19-50837883-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837883T>C , CM000681.2:g.50837883T>C GRCh38
NC_000019.9:g.51341139T>C , CM000681.1:g.51341139T>C GRCh37
NC_000019.8:g.56032951T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6590T>C
NR_131205.1:n.230+6590T>C
XR_936030.1:n.298+6590T>C
XR_936031.1:n.298+6590T>C
XR_936032.1:n.298+6590T>C
XR_936033.1:n.294+6590T>C
XR_936035.1:n.281+6590T>C
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