Canonical Allele Identifier: CA10992537
Gene:

Linked Data

dbSNP Id: rs17706439
gnomAD v2: 1-213855588-G-A
gnomAD v3: 1-213682245-G-A
gnomAD v4: 1-213682245-G-A
MyVariant Identifiers: chr1:g.213855588G>A (hg19) chr1:g.213682245G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.213682245G>A , CM000663.2:g.213682245G>A GRCh38
NC_000001.10:g.213855588G>A , CM000663.1:g.213855588G>A GRCh37
NC_000001.9:g.211922211G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738463.1:n.601-49172G>A
XR_001738464.1:n.426-49172G>A
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