Canonical Allele Identifier: CA185200395
Gene:

Linked Data

dbSNP Id: rs1002301218
gnomAD v3: 8-122395809-T-C
gnomAD v4: 8-122395809-T-C
MyVariant Identifiers: chr8:g.123408048T>C (hg19) chr8:g.122395809T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395809T>C , CM000670.2:g.122395809T>C GRCh38
NC_000008.10:g.123408048T>C , CM000670.1:g.123408048T>C GRCh37
NC_000008.9:g.123477229T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3363A>G
XR_928599.3:n.152+3363A>G
Search 100 bp 5'
Search 100 bp 3'