Canonical Allele Identifier: CA343774817
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3049200
ClinVar RCV Id: RCV003959075
MyVariant Identifiers: chr1:g.173879074A>G (hg19) chr1:g.173909936A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909936A>G , CM000663.2:g.173909936A>G GRCh38
NC_000001.10:g.173879074A>G , CM000663.1:g.173879074A>G GRCh37
NC_000001.9:g.172145697A>G NCBI36
NG_012462.1:g.12443T>C , LRG_577:g.12443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.769T>C MANE Select ENSP00000356671.3:p.Trp257Arg
ENST00000367698.3:c.769T>C ENSP00000356671.3:p.Trp257Arg
ENST00000487183.1:n.420T>C
ENST00000617423.4:c.559+1928T>C ENSP00000478688.1:n.559+1928T>C
NM_000488.3:c.769T>C , LRG_577t1:c.769T>C NP_000479.1:p.Trp257Arg
XM_005245198.2:c.625T>C XP_005245255.1:p.Trp209Arg
NM_001365052.1:c.625T>C NP_001351981.1:p.Trp209Arg
NM_000488.4:c.769T>C MANE Select NP_000479.1:p.Trp257Arg
NM_001365052.2:c.625T>C NP_001351981.1:p.Trp209Arg
NM_001386302.1:c.892T>C NP_001373231.1:p.Trp298Arg
NM_001386303.1:c.850T>C NP_001373232.1:p.Trp284Arg
NM_001386304.1:c.748T>C NP_001373233.1:p.Trp250Arg
NM_001386305.1:c.763-51T>C NP_001373234.1:n.763-51T>C
NM_001386306.1:c.553T>C NP_001373235.1:p.Trp185Arg
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