Canonical Allele Identifier: CA12863139
Gene:

Linked Data

dbSNP Id: rs1992045
gnomAD v2: 8-58840924-C-T
gnomAD v3: 8-57928365-C-T
gnomAD v4: 8-57928365-C-T
MyVariant Identifiers: chr8:g.58840924C>T (hg19) chr8:g.57928365C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.57928365C>T , CM000670.2:g.57928365C>T GRCh38
NC_000008.10:g.58840924C>T , CM000670.1:g.58840924C>T GRCh37
NC_000008.9:g.59003478C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928921.1:n.347-29911C>T
XR_928921.2:n.349-29911C>T
Search 100 bp 5'
Search 100 bp 3'