Canonical Allele Identifier: CA2597569099
Gene:

Linked Data

dbSNP Id: rs2107006526
gnomAD v3: 3-53057237-C-A
gnomAD v4: 3-53057237-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057237C>A , CM000665.2:g.53057237C>A GRCh38
NC_000003.11:g.53091253C>A , CM000665.1:g.53091253C>A GRCh37
NC_000003.10:g.53066293C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9998G>T
ENST00000607283.5:c.465-13983G>T
ENST00000607495.5:c.447+20451G>T
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