Canonical Allele Identifier: CA977151133
Gene:

Linked Data

dbSNP Id: rs1749860569
gnomAD v3: 16-49108840-C-T
gnomAD v4: 16-49108840-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108840C>T , CM000678.2:g.49108840C>T GRCh38
NC_000016.9:g.49142751C>T , CM000678.1:g.49142751C>T GRCh37
NC_000016.8:g.47700252C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1104G>A
XR_001752138.2:n.591+5136G>A
XR_933517.2:n.810+1104G>A
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