Canonical Allele Identifier: CA343773925
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907090
ClinVar RCV Id: RCV003639151
gnomAD v4: 1-173909705-C-T
MyVariant Identifiers: chr1:g.173878843C>T (hg19) chr1:g.173909705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909705C>T , CM000663.2:g.173909705C>T GRCh38
NC_000001.10:g.173878843C>T , CM000663.1:g.173878843C>T GRCh37
NC_000001.9:g.172145466C>T NCBI36
NG_012462.1:g.12674G>A , LRG_577:g.12674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1000G>A MANE Select ENSP00000356671.3:p.Glu334Lys
ENST00000367698.3:c.1000G>A ENSP00000356671.3:p.Glu334Lys
ENST00000617423.4:c.559+2159G>A ENSP00000478688.1:n.559+2159G>A
NM_000488.3:c.1000G>A , LRG_577t1:c.1000G>A NP_000479.1:p.Glu334Lys
XM_005245198.2:c.856G>A XP_005245255.1:p.Glu286Lys
NM_001365052.1:c.856G>A NP_001351981.1:p.Glu286Lys
NM_000488.4:c.1000G>A MANE Select NP_000479.1:p.Glu334Lys
NM_001365052.2:c.856G>A NP_001351981.1:p.Glu286Lys
NM_001386302.1:c.1123G>A NP_001373231.1:p.Glu375Lys
NM_001386303.1:c.1081G>A NP_001373232.1:p.Glu361Lys
NM_001386304.1:c.979G>A NP_001373233.1:p.Glu327Lys
NM_001386305.1:c.943G>A NP_001373234.1:p.Glu315Lys
NM_001386306.1:c.784G>A NP_001373235.1:p.Glu262Lys
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