Canonical Allele Identifier: CA38657543
Gene:

Linked Data

dbSNP Id: rs575002480
gnomAD v2: 1-224256170-G-A
gnomAD v3: 1-224068468-G-A
gnomAD v4: 1-224068468-G-A
MyVariant Identifiers: chr1:g.224256170G>A (hg19) chr1:g.224068468G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068468G>A , CM000663.2:g.224068468G>A GRCh38
NC_000001.10:g.224256170G>A , CM000663.1:g.224256170G>A GRCh37
NC_000001.9:g.222322793G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949173.1:n.385+814G>A
XR_001737824.1:n.242+814G>A
Search 100 bp 5'
Search 100 bp 3'