Canonical Allele Identifier: CA996828950
Gene:

Linked Data

dbSNP Id: rs2090050513
gnomAD v3: 19-50837628-C-G
gnomAD v4: 19-50837628-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837628C>G , CM000681.2:g.50837628C>G GRCh38
NC_000019.9:g.51340884C>G , CM000681.1:g.51340884C>G GRCh37
NC_000019.8:g.56032696C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6335C>G
NR_131205.1:n.230+6335C>G
XR_936030.1:n.298+6335C>G
XR_936031.1:n.298+6335C>G
XR_936032.1:n.298+6335C>G
XR_936033.1:n.294+6335C>G
XR_936035.1:n.281+6335C>G
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