Canonical Allele Identifier: CA2592101027
Gene:

Linked Data

dbSNP Id: rs2113482183
gnomAD v3: 6-11943520-C-T
gnomAD v4: 6-11943520-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943520C>T , CM000668.2:g.11943520C>T GRCh38
NC_000006.11:g.11943753C>T , CM000668.1:g.11943753C>T GRCh37
NC_000006.10:g.12051739C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-8015C>T
Search 100 bp 5'
Search 100 bp 3'