Canonical Allele Identifier: CA114999
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165019732T>G
GRCh37 chr3:g.164737520T>G
Revel Score:
ENST00000264382 (MANE Select) 0.698
gnomAD v2:
3:164737520 T / G
gnomAD v3:
3:165019732 T / G
gnomAD v4:
chr3-165019732-T-G
Joint Max Group AF 0.00002557 (NFE)
Genomes Max Group AF 0.00001173 (NFE)
Exomes Max Group AF 0.00002457 (NFE)
ClinVar RCV:
RCV000001477
RCV002512643
ClinVar Variation:
1412
dbSNP:
121912611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165019732T>G , CM000665.2:g.165019732T>G GRCh38
NC_000003.11:g.164737520T>G , CM000665.1:g.164737520T>G GRCh37
NC_000003.10:g.166220214T>G NCBI36
NG_017043.1:g.63764A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.3293A>C MANE Select ENSP00000264382.3:p.Gln1098Pro
ENST00000264382.7:c.3293A>C ENSP00000264382.3:p.Gln1098Pro
NM_001041.3:c.3293A>C NP_001032.2:p.Gln1098Pro
XM_011513078.1:c.3194A>C XP_011511380.1:p.Gln1065Pro
XM_011513078.2:c.3194A>C XP_011511380.1:p.Gln1065Pro
NM_001041.4:c.3293A>C MANE Select NP_001032.2:p.Gln1098Pro
Search 100 bp 5'
Search 100 bp 3'