Canonical Allele Identifier: CA525373981
Gene:

Linked Data

dbSNP Id: rs1165635909
gnomAD v2: 1-113250788-A-T
gnomAD v3: 1-112708166-A-T
gnomAD v4: 1-112708166-A-T
MyVariant Identifiers: chr1:g.113250788A>T (hg19) chr1:g.112708166A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112708166A>T , CM000663.2:g.112708166A>T GRCh38
NC_000001.10:g.113250788A>T , CM000663.1:g.113250788A>T GRCh37
NC_000001.9:g.113052311A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000471038.6:n.428+2294T>A
ENST00000605933.5:c.414+2294T>A
ENST00000606505.5:c.414+2294T>A
ENST00000606954.1:c.350+2294T>A
ENST00000607158.5:n.477+2294T>A
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