Canonical Allele Identifier: CA2000589983
Gene:

Linked Data

dbSNP Id: rs1866696749

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164737A>G , CM000673.2:g.112164737A>G GRCh38
NC_000011.9:g.112035460A>G , CM000673.1:g.112035460A>G GRCh37
NC_000011.8:g.111540670A>G NCBI36
NG_028143.1:g.4381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5682A>G
ENST00000531744.5:c.315-5682A>G ENSP00000456957.1:n.315-5682A>G
ENST00000532699.1:c.315-5682A>G ENSP00000456434.1:n.315-5682A>G