Canonical Allele Identifier: CA2690937
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs749245440
ExAC: 3:164764699 G / A
gnomAD v2: 3-164764699-G-A
gnomAD v4: 3-165046911-G-A
MyVariant Identifiers: chr3:g.164764699G>A (hg19) chr3:g.165046911G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046911G>A , CM000665.2:g.165046911G>A GRCh38
NC_000003.11:g.164764699G>A , CM000665.1:g.164764699G>A GRCh37
NC_000003.10:g.166247393G>A NCBI36
NG_017043.1:g.36585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1817C>T MANE Select ENSP00000264382.3:p.Thr606Ile
ENST00000264382.7:c.1817C>T ENSP00000264382.3:p.Thr606Ile
NM_001041.3:c.1817C>T NP_001032.2:p.Thr606Ile
XM_011513078.1:c.1718C>T XP_011511380.1:p.Thr573Ile
XM_011513078.2:c.1718C>T XP_011511380.1:p.Thr573Ile
NM_001041.4:c.1817C>T MANE Select NP_001032.2:p.Thr606Ile
Search 100 bp 5'
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