Canonical Allele Identifier: CA343773780
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1448465871
gnomAD v3: 1-173909672-C-T
gnomAD v4: 1-173909672-C-T
MyVariant Identifiers: chr1:g.173878810C>T (hg19) chr1:g.173909672C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909672C>T , CM000663.2:g.173909672C>T GRCh38
NC_000001.10:g.173878810C>T , CM000663.1:g.173878810C>T GRCh37
NC_000001.9:g.172145433C>T NCBI36
NG_012462.1:g.12707G>A , LRG_577:g.12707G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1033G>A MANE Select ENSP00000356671.3:p.Glu345Lys
ENST00000367698.3:c.1033G>A ENSP00000356671.3:p.Glu345Lys
ENST00000617423.4:c.560-2179G>A ENSP00000478688.1:n.560-2179G>A
NM_000488.3:c.1033G>A , LRG_577t1:c.1033G>A NP_000479.1:p.Glu345Lys
XM_005245198.2:c.889G>A XP_005245255.1:p.Glu297Lys
NM_001365052.1:c.889G>A NP_001351981.1:p.Glu297Lys
NM_000488.4:c.1033G>A MANE Select NP_000479.1:p.Glu345Lys
NM_001365052.2:c.889G>A NP_001351981.1:p.Glu297Lys
NM_001386302.1:c.1156G>A NP_001373231.1:p.Glu386Lys
NM_001386303.1:c.1114G>A NP_001373232.1:p.Glu372Lys
NM_001386304.1:c.1012G>A NP_001373233.1:p.Glu338Lys
NM_001386305.1:c.976G>A NP_001373234.1:p.Glu326Lys
NM_001386306.1:c.817G>A NP_001373235.1:p.Glu273Lys
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