Canonical Allele Identifier: CA177876015
Gene:

Linked Data

dbSNP Id: rs1436013
gnomAD v2: 8-58778118-T-C
gnomAD v3: 8-57865559-T-C
gnomAD v4: 8-57865559-T-C
MyVariant Identifiers: chr8:g.58778118T>C (hg19) chr8:g.57865559T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.57865559T>C , CM000670.2:g.57865559T>C GRCh38
NC_000008.10:g.58778118T>C , CM000670.1:g.58778118T>C GRCh37
NC_000008.9:g.58940672T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928921.1:n.346+941T>C
XR_928921.2:n.348+941T>C
Search 100 bp 5'
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