Canonical Allele Identifier: CA12739905
Gene:

Linked Data

dbSNP Id: rs2019960
gnomAD v2: 8-129192271-T-C
gnomAD v3: 8-128180025-T-C
gnomAD v4: 8-128180025-T-C
MyVariant Identifiers: chr8:g.129192271T>C (hg19) chr8:g.128180025T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.128180025T>C , CM000670.2:g.128180025T>C GRCh38
NC_000008.10:g.129192271T>C , CM000670.1:g.129192271T>C GRCh37
NC_000008.9:g.129261453T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928641.1:n.861-6531T>C
Search 100 bp 5'
Search 100 bp 3'