Canonical Allele Identifier: CA1086018041
Gene:

Linked Data

dbSNP Id: rs1766143635
gnomAD v3: 6-11943712-T-C
gnomAD v4: 6-11943712-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943712T>C , CM000668.2:g.11943712T>C GRCh38
NC_000006.11:g.11943945T>C , CM000668.1:g.11943945T>C GRCh37
NC_000006.10:g.12051931T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7823T>C
Search 100 bp 5'
Search 100 bp 3'