Canonical Allele Identifier: CA964316735
Gene:

Linked Data

dbSNP Id: rs974126510
gnomAD v3: 14-68807147-C-A
gnomAD v4: 14-68807147-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.68807147C>A , CM000676.2:g.68807147C>A GRCh38
NC_000014.8:g.69273864C>A , CM000676.1:g.69273864C>A GRCh37
NC_000014.7:g.68343617C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011537441.1:c.673-493G>T XP_011535743.1:n.673-493G>T
XM_011537442.1:c.673-493G>T XP_011535744.1:n.673-493G>T
XM_011537443.1:c.673-493G>T XP_011535745.1:n.673-493G>T
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