Canonical Allele Identifier: CA355030085
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 1487236
ClinVar RCV Id: RCV002033499
dbSNP Id: rs1301172097
gnomAD v2: 3-164714558-T-C
gnomAD v3: 3-164996770-T-C
gnomAD v4: 3-164996770-T-C
MyVariant Identifiers: chr3:g.164714558T>C (hg19) chr3:g.164996770T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996770T>C , CM000665.2:g.164996770T>C GRCh38
NC_000003.11:g.164714558T>C , CM000665.1:g.164714558T>C GRCh37
NC_000003.10:g.166197252T>C NCBI36
NG_017043.1:g.86726A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4543A>G MANE Select ENSP00000264382.3:p.Met1515Val
ENST00000264382.7:c.4543A>G ENSP00000264382.3:p.Met1515Val
NM_001041.3:c.4543A>G NP_001032.2:p.Met1515Val
XM_011513078.1:c.4444A>G XP_011511380.1:p.Met1482Val
XM_011513078.2:c.4444A>G XP_011511380.1:p.Met1482Val
NM_001041.4:c.4543A>G MANE Select NP_001032.2:p.Met1515Val
Search 100 bp 5'
Search 100 bp 3'