Canonical Allele Identifier: CA309669037
Gene:

Linked Data

dbSNP Id: rs993604396
gnomAD v2: 19-51341061-G-A
gnomAD v3: 19-50837805-G-A
gnomAD v4: 19-50837805-G-A
MyVariant Identifiers: chr19:g.51341061G>A (hg19) chr19:g.50837805G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837805G>A , CM000681.2:g.50837805G>A GRCh38
NC_000019.9:g.51341061G>A , CM000681.1:g.51341061G>A GRCh37
NC_000019.8:g.56032873G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6512G>A
NR_131205.1:n.230+6512G>A
XR_936030.1:n.298+6512G>A
XR_936031.1:n.298+6512G>A
XR_936032.1:n.298+6512G>A
XR_936033.1:n.294+6512G>A
XR_936035.1:n.281+6512G>A
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