Canonical Allele Identifier: CA949371158
Gene:

Linked Data

dbSNP Id: rs1870341469
gnomAD v3: 12-76004859-A-C
gnomAD v4: 12-76004859-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76004859A>C , CM000674.2:g.76004859A>C GRCh38
NC_000012.11:g.76398639A>C , CM000674.1:g.76398639A>C GRCh37
NC_000012.10:g.74684906A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945110.1:n.311+1330T>G
XR_001749218.2:n.403-1282T>G
XR_945110.3:n.402+1330T>G
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