Canonical Allele Identifier: CA31701762
Gene:

Linked Data

dbSNP Id: rs562520046
gnomAD v3: 1-168649287-G-A
gnomAD v4: 1-168649287-G-A
MyVariant Identifiers: chr1:g.168618525G>A (hg19) chr1:g.168649287G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168649287G>A , CM000663.2:g.168649287G>A GRCh38
NC_000001.10:g.168618525G>A , CM000663.1:g.168618525G>A GRCh37
NC_000001.9:g.166885149G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922259.1:n.201-8012C>T
XR_922259.2:n.332-8012C>T
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