Canonical Allele Identifier: CA1036161619
Gene:

Linked Data

dbSNP Id: rs550628913
gnomAD v3: 2-127431780-C-G
gnomAD v4: 2-127431780-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127431780C>G , CM000664.2:g.127431780C>G GRCh38
NC_000002.11:g.128189356C>G , CM000664.1:g.128189356C>G GRCh37
NC_000002.10:g.127905826C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_923313.1:n.1218G>C
XR_001739705.1:n.3607-3516G>C
XR_923313.2:n.3929G>C
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