Canonical Allele Identifier: CA2522895240
Gene:

Linked Data

dbSNP Id: rs2135332231
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166819C>T , CM000673.2:g.112166819C>T GRCh38
NC_000011.9:g.112037542C>T , CM000673.1:g.112037542C>T GRCh37
NC_000011.8:g.111542752C>T NCBI36
NG_028143.1:g.2299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3600C>T
ENST00000531744.5:c.315-3600C>T ENSP00000456957.1:n.315-3600C>T
ENST00000532699.1:c.315-3600C>T ENSP00000456434.1:n.315-3600C>T
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