Canonical Allele Identifier: CA210802

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18044
• ClinVar RCV Id: RCV000019660
• dbSNP Id: rs121909573
• MyVariant Identifiers: chr1:g.173883720A>G (hg19) ; chr1:g.173914582A>G (hg38)
• PubMed: PMID:9157604 ; PMID:12399451

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914582A>G , CM000663.2:g.173914582A>G	GRCh38
NC_000001.10:g.173883720A>G , CM000663.1:g.173883720A>G	GRCh37
NC_000001.9:g.172150343A>G	NCBI36
NG_012462.1:g.7797T>C , LRG_577:g.7797T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.379T>C MANE Select	ENSP00000356671.3:p.Cys127Arg
ENST00000367698.3:c.379T>C	ENSP00000356671.3:p.Cys127Arg
ENST00000487183.1:n.84T>C
ENST00000494024.1:n.605T>C
ENST00000617423.4:c.379T>C	ENSP00000478688.1:p.Cys127Arg
NM_000488.3:c.379T>C , LRG_577t1:c.379T>C	NP_000479.1:p.Cys127Arg
XM_005245198.2:c.235T>C	XP_005245255.1:p.Cys79Arg
NM_001365052.1:c.235T>C	NP_001351981.1:p.Cys79Arg
NM_000488.4:c.379T>C MANE Select	NP_000479.1:p.Cys127Arg
NM_001365052.2:c.235T>C	NP_001351981.1:p.Cys79Arg
NM_001386302.1:c.379T>C	NP_001373231.1:p.Cys127Arg
NM_001386303.1:c.460T>C	NP_001373232.1:p.Cys154Arg
NM_001386304.1:c.379T>C	NP_001373233.1:p.Cys127Arg
NM_001386305.1:c.379T>C	NP_001373234.1:p.Cys127Arg
NM_001386306.1:c.379T>C	NP_001373235.1:p.Cys127Arg