Canonical Allele Identifier: CA12797728
Gene:

Linked Data

dbSNP Id: rs2954029
gnomAD v2: 8-126490972-A-T
gnomAD v3: 8-125478730-A-T
gnomAD v4: 8-125478730-A-T
MyVariant Identifiers: chr8:g.126490972A>T (hg19) chr8:g.125478730A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478730A>T , CM000670.2:g.125478730A>T GRCh38
NC_000008.10:g.126490972A>T , CM000670.1:g.126490972A>T GRCh37
NC_000008.9:g.126560154A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928628.1:n.256+5416A>T
Search 100 bp 5'
Search 100 bp 3'