Canonical Allele Identifier: CA31701807
Gene:

Linked Data

dbSNP Id: rs138227719
gnomAD v2: 1-168618638-A-G
gnomAD v3: 1-168649400-A-G
gnomAD v4: 1-168649400-A-G
MyVariant Identifiers: chr1:g.168618638A>G (hg19) chr1:g.168649400A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.168649400A>G , CM000663.2:g.168649400A>G GRCh38
NC_000001.10:g.168618638A>G , CM000663.1:g.168618638A>G GRCh37
NC_000001.9:g.166885262A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922259.1:n.201-8125T>C
XR_922259.2:n.332-8125T>C
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