Canonical Allele Identifier: CA671767205
Gene:

Linked Data

dbSNP Id: rs1317581506
MyVariant Identifiers: chr11:g.112037545G>C (hg19) chr11:g.112166822G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166822G>C , CM000673.2:g.112166822G>C GRCh38
NC_000011.9:g.112037545G>C , CM000673.1:g.112037545G>C GRCh37
NC_000011.8:g.111542755G>C NCBI36
NG_028143.1:g.2296C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3597G>C
ENST00000531744.5:c.315-3597G>C ENSP00000456957.1:n.315-3597G>C
ENST00000532699.1:c.315-3597G>C ENSP00000456434.1:n.315-3597G>C
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