Canonical Allele Identifier: CA2000590817
Gene:

Linked Data

dbSNP Id: rs1280414961
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166961A>G , CM000673.2:g.112166961A>G GRCh38
NC_000011.9:g.112037684A>G , CM000673.1:g.112037684A>G GRCh37
NC_000011.8:g.111542894A>G NCBI36
NG_028143.1:g.2157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3458A>G
ENST00000531744.5:c.315-3458A>G ENSP00000456957.1:n.315-3458A>G
ENST00000532699.1:c.315-3458A>G ENSP00000456434.1:n.315-3458A>G
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