Canonical Allele Identifier: CA1035662747
Gene:

Linked Data

dbSNP Id: rs1456189298
gnomAD v3: 2-120332293-C-A
gnomAD v4: 2-120332293-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120332293C>A , CM000664.2:g.120332293C>A GRCh38
NC_000002.11:g.121089869C>A , CM000664.1:g.121089869C>A GRCh37
NC_000002.10:g.120806339C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512307.1:c.141+3487C>A XP_011510609.1:n.141+3487C>A
Search 100 bp 5'
Search 100 bp 3'