Canonical Allele Identifier: CA2690932
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs758649061
ExAC: 3:164764659 C / A
gnomAD v2: 3-164764659-C-A
gnomAD v4: 3-165046871-C-A
MyVariant Identifiers: chr3:g.164764659C>A (hg19) chr3:g.165046871C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046871C>A , CM000665.2:g.165046871C>A GRCh38
NC_000003.11:g.164764659C>A , CM000665.1:g.164764659C>A GRCh37
NC_000003.10:g.166247353C>A NCBI36
NG_017043.1:g.36625G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1857G>T MANE Select ENSP00000264382.3:p.Met619Ile
ENST00000264382.7:c.1857G>T ENSP00000264382.3:p.Met619Ile
NM_001041.3:c.1857G>T NP_001032.2:p.Met619Ile
XM_011513078.1:c.1758G>T XP_011511380.1:p.Met586Ile
XM_011513078.2:c.1758G>T XP_011511380.1:p.Met586Ile
NM_001041.4:c.1857G>T MANE Select NP_001032.2:p.Met619Ile
Search 100 bp 5'
Search 100 bp 3'