Canonical Allele Identifier: CA185200441
Gene:

Linked Data

dbSNP Id: rs753053848
gnomAD v3: 8-122396147-C-T
gnomAD v4: 8-122396147-C-T
MyVariant Identifiers: chr8:g.123408386C>T (hg19) chr8:g.122396147C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396147C>T , CM000670.2:g.122396147C>T GRCh38
NC_000008.10:g.123408386C>T , CM000670.1:g.123408386C>T GRCh37
NC_000008.9:g.123477567C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3025G>A
XR_928599.3:n.152+3025G>A
Search 100 bp 5'
Search 100 bp 3'