Canonical Allele Identifier: CA521021342
Gene:

Linked Data

dbSNP Id: rs979721626
gnomAD v2: 1-752649-T-A
gnomAD v3: 1-817269-T-A
gnomAD v4: 1-817269-T-A
MyVariant Identifiers: chr1:g.752649T>A (hg19) chr1:g.817269T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817269T>A , CM000663.2:g.817269T>A GRCh38
NC_000001.10:g.752649T>A , CM000663.1:g.752649T>A GRCh37
NC_000001.9:g.742512T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10401A>T
ENST00000635509.2:n.100+10401A>T
ENST00000447500.4:n.340+104A>T
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