Canonical Allele Identifier: CA2690929
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs761862749
ExAC: 3:164764643 A / G
gnomAD v2: 3-164764643-A-G
gnomAD v4: 3-165046855-A-G
MyVariant Identifiers: chr3:g.164764643A>G (hg19) chr3:g.165046855A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046855A>G , CM000665.2:g.165046855A>G GRCh38
NC_000003.11:g.164764643A>G , CM000665.1:g.164764643A>G GRCh37
NC_000003.10:g.166247337A>G NCBI36
NG_017043.1:g.36641T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1873T>C MANE Select ENSP00000264382.3:p.Phe625Leu
ENST00000264382.7:c.1873T>C ENSP00000264382.3:p.Phe625Leu
NM_001041.3:c.1873T>C NP_001032.2:p.Phe625Leu
XM_011513078.1:c.1774T>C XP_011511380.1:p.Phe592Leu
XM_011513078.2:c.1774T>C XP_011511380.1:p.Phe592Leu
NM_001041.4:c.1873T>C MANE Select NP_001032.2:p.Phe625Leu
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