Canonical Allele Identifier: CA180041975
Gene:

Linked Data

dbSNP Id: rs13259667
gnomAD v2: 8-78325885-G-A
gnomAD v3: 8-77413649-G-A
gnomAD v4: 8-77413649-G-A
MyVariant Identifiers: chr8:g.78325885G>A (hg19) chr8:g.77413649G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.77413649G>A , CM000670.2:g.77413649G>A GRCh38
NC_000008.10:g.78325885G>A , CM000670.1:g.78325885G>A GRCh37
NC_000008.9:g.78488440G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929071.1:n.231-5029G>A
XR_001745963.1:n.191-5029G>A
Search 100 bp 5'
Search 100 bp 3'