Canonical Allele Identifier: CA355052175
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 2312185
ClinVar RCV Id: RCV002901677
dbSNP Id: rs1713145339
MyVariant Identifiers: chr3:g.164764688C>T (hg19) chr3:g.165046900C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046900C>T , CM000665.2:g.165046900C>T GRCh38
NC_000003.11:g.164764688C>T , CM000665.1:g.164764688C>T GRCh37
NC_000003.10:g.166247382C>T NCBI36
NG_017043.1:g.36596G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1828G>A MANE Select ENSP00000264382.3:p.Glu610Lys
ENST00000264382.7:c.1828G>A ENSP00000264382.3:p.Glu610Lys
NM_001041.3:c.1828G>A NP_001032.2:p.Glu610Lys
XM_011513078.1:c.1729G>A XP_011511380.1:p.Glu577Lys
XM_011513078.2:c.1729G>A XP_011511380.1:p.Glu577Lys
NM_001041.4:c.1828G>A MANE Select NP_001032.2:p.Glu610Lys
Search 100 bp 5'
Search 100 bp 3'