Canonical Allele Identifier: CA13616449
Gene:

Linked Data

dbSNP Id: rs11047543
gnomAD v2: 12-24788339-G-A
gnomAD v3: 12-24635405-G-A
gnomAD v4: 12-24635405-G-A
MyVariant Identifiers: chr12:g.24788339G>A (hg19) chr12:g.24635405G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24635405G>A , CM000674.2:g.24635405G>A GRCh38
NC_000012.11:g.24788339G>A , CM000674.1:g.24788339G>A GRCh37
NC_000012.10:g.24679606G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749046.1:n.425-17595C>T
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