Canonical Allele Identifier: CA885639447
Gene:

Linked Data

dbSNP Id: rs1480027343
MyVariant Identifiers: chr1:g.113250866A>G (hg19) chr1:g.112708244A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112708244A>G , CM000663.2:g.112708244A>G GRCh38
NC_000001.10:g.113250866A>G , CM000663.1:g.113250866A>G GRCh37
NC_000001.9:g.113052389A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000471038.6:n.428+2216T>C
ENST00000605933.5:c.414+2216T>C
ENST00000606505.5:c.414+2216T>C
ENST00000606954.1:c.350+2216T>C
ENST00000607158.5:n.477+2216T>C
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