Canonical Allele Identifier: CA671767146
Gene:

Linked Data

dbSNP Id: rs1290257006
MyVariant Identifiers: chr11:g.112037391T>C (hg19) chr11:g.112166668T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166668T>C , CM000673.2:g.112166668T>C GRCh38
NC_000011.9:g.112037391T>C , CM000673.1:g.112037391T>C GRCh37
NC_000011.8:g.111542601T>C NCBI36
NG_028143.1:g.2450A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3751T>C
ENST00000531744.5:c.315-3751T>C ENSP00000456957.1:n.315-3751T>C
ENST00000532699.1:c.315-3751T>C ENSP00000456434.1:n.315-3751T>C
Search 100 bp 5'
Search 100 bp 3'