Canonical Allele Identifier: CA2595188861
Gene:

Linked Data

dbSNP Id: rs2140220013
gnomAD v3: 14-68807092-A-C
gnomAD v4: 14-68807092-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.68807092A>C , CM000676.2:g.68807092A>C GRCh38
NC_000014.8:g.69273809A>C , CM000676.1:g.69273809A>C GRCh37
NC_000014.7:g.68343562A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011537441.1:c.673-438T>G XP_011535743.1:n.673-438T>G
XM_011537442.1:c.673-438T>G XP_011535744.1:n.673-438T>G
XM_011537443.1:c.673-438T>G XP_011535745.1:n.673-438T>G
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