Canonical Allele Identifier: CA210750
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18007
ClinVar RCV Id: RCV000019623 RCV003886364
dbSNP Id: rs121909548
MyVariant Identifiers: chr1:g.173873176C>G (hg19) chr1:g.173904038C>G (hg38)
PubMed: PMID:2093312 PMID:2349545 PMID:2615648 PMID:2794060 PMID:4082101 PMID:6871107 PMID:25363768
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904038C>G , CM000663.2:g.173904038C>G GRCh38
NC_000001.10:g.173873176C>G , CM000663.1:g.173873176C>G GRCh37
NC_000001.9:g.172139799C>G NCBI36
NG_012462.1:g.18341G>C , LRG_577:g.18341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1246G>C MANE Select ENSP00000356671.3:p.Ala416Pro
ENST00000367698.3:c.1246G>C ENSP00000356671.3:p.Ala416Pro
ENST00000617423.4:c.631G>C ENSP00000478688.1:p.Ala211Pro
NM_000488.3:c.1246G>C , LRG_577t1:c.1246G>C NP_000479.1:p.Ala416Pro
XM_005245198.2:c.1102G>C XP_005245255.1:p.Ala368Pro
NM_001365052.1:c.1102G>C NP_001351981.1:p.Ala368Pro
NM_000488.4:c.1246G>C MANE Select NP_000479.1:p.Ala416Pro
NM_001365052.2:c.1102G>C NP_001351981.1:p.Ala368Pro
NM_001386302.1:c.1369G>C NP_001373231.1:p.Ala457Pro
NM_001386303.1:c.1327G>C NP_001373232.1:p.Ala443Pro
NM_001386304.1:c.1225G>C NP_001373233.1:p.Ala409Pro
NM_001386305.1:c.1189G>C NP_001373234.1:p.Ala397Pro
NM_001386306.1:c.1030G>C NP_001373235.1:p.Ala344Pro
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