Canonical Allele Identifier: CA175153985
Gene:

Linked Data

dbSNP Id: rs914247592
gnomAD v2: 8-33665817-T-C
gnomAD v3: 8-33808299-T-C
gnomAD v4: 8-33808299-T-C
MyVariant Identifiers: chr8:g.33665817T>C (hg19) chr8:g.33808299T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808299T>C , CM000670.2:g.33808299T>C GRCh38
NC_000008.10:g.33665817T>C , CM000670.1:g.33665817T>C GRCh37
NC_000008.9:g.33785359T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11863T>C
XR_002956701.1:n.240+11863T>C
Search 100 bp 5'
Search 100 bp 3'