ClinGen Allele Registry
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Canonical Allele Identifier:
CA241334369
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.95330153G>A
GRCh37
chr12:g.95723929G>A
Linked Data - NCBI & NCI
dbSNP:
11107987
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95330153G>A , CM000674.2:g.95330153G>A
GRCh38
NC_000012.11:g.95723929G>A , CM000674.1:g.95723929G>A
GRCh37
NC_000012.10:g.94248060G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000636165.1:n.1058+10220C>T
Search 100 bp 5'
Search 100 bp 3'