Canonical Allele Identifier: CA309669033
Gene:

Linked Data

dbSNP Id: rs553936508
gnomAD v2: 19-51341055-G-A
gnomAD v3: 19-50837799-G-A
gnomAD v4: 19-50837799-G-A
MyVariant Identifiers: chr19:g.51341055G>A (hg19) chr19:g.50837799G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837799G>A , CM000681.2:g.50837799G>A GRCh38
NC_000019.9:g.51341055G>A , CM000681.1:g.51341055G>A GRCh37
NC_000019.8:g.56032867G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6506G>A
NR_131205.1:n.230+6506G>A
XR_936030.1:n.298+6506G>A
XR_936031.1:n.298+6506G>A
XR_936032.1:n.298+6506G>A
XR_936033.1:n.294+6506G>A
XR_936035.1:n.281+6506G>A
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