Canonical Allele Identifier: CA355052112
Gene: SI HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.164764661T>C (hg19) chr3:g.165046873T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046873T>C , CM000665.2:g.165046873T>C GRCh38
NC_000003.11:g.164764661T>C , CM000665.1:g.164764661T>C GRCh37
NC_000003.10:g.166247355T>C NCBI36
NG_017043.1:g.36623A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1855A>G MANE Select ENSP00000264382.3:p.Met619Val
ENST00000264382.7:c.1855A>G ENSP00000264382.3:p.Met619Val
NM_001041.3:c.1855A>G NP_001032.2:p.Met619Val
XM_011513078.1:c.1756A>G XP_011511380.1:p.Met586Val
XM_011513078.2:c.1756A>G XP_011511380.1:p.Met586Val
NM_001041.4:c.1855A>G MANE Select NP_001032.2:p.Met619Val
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