Canonical Allele Identifier: CA210758

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18014
• ClinVar RCV Id: RCV000019630 ; RCV002054451
• dbSNP Id: rs121909552
• ExAC: 1:173883863 C / T
• gnomAD v2: 1-173883863-C-T
• gnomAD v3: 1-173914725-C-T
• gnomAD v4: 1-173914725-C-T
• COSMIC: COSM899818
• MyVariant Identifiers: chr1:g.173883863C>T (hg19) ; chr1:g.173914725C>T (hg38)
• PubMed: PMID:1998601 ; PMID:2615648 ; PMID:3567355 ; PMID:7981186
• ERepo: CA210758/MONDO:0013144/084

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914725C>T , CM000663.2:g.173914725C>T	GRCh38
NC_000001.10:g.173883863C>T , CM000663.1:g.173883863C>T	GRCh37
NC_000001.9:g.172150486C>T	NCBI36
NG_012462.1:g.7654G>A , LRG_577:g.7654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.236G>A MANE Select	ENSP00000356671.3:p.Arg79His
ENST00000367698.3:c.236G>A	ENSP00000356671.3:p.Arg79His
ENST00000494024.1:n.462G>A
ENST00000617423.4:c.236G>A	ENSP00000478688.1:p.Arg79His
NM_000488.3:c.236G>A , LRG_577t1:c.236G>A	NP_000479.1:p.Arg79His
XM_005245198.2:c.92G>A	XP_005245255.1:p.Arg31His
NM_001365052.1:c.92G>A	NP_001351981.1:p.Arg31His
NM_000488.4:c.236G>A MANE Select	NP_000479.1:p.Arg79His
NM_001365052.2:c.92G>A	NP_001351981.1:p.Arg31His
NM_001386302.1:c.236G>A	NP_001373231.1:p.Arg79His
NM_001386303.1:c.317G>A	NP_001373232.1:p.Arg106His
NM_001386304.1:c.236G>A	NP_001373233.1:p.Arg79His
NM_001386305.1:c.236G>A	NP_001373234.1:p.Arg79His
NM_001386306.1:c.236G>A	NP_001373235.1:p.Arg79His