Canonical Allele Identifier: CA325653

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 18012
• ClinVar RCV Id: RCV000019628 ; RCV000857628 ; RCV000852239 ; RCV000852240
• dbSNP Id: rs2227624
• ExAC: 1:173884010 A / T
• gnomAD v2: 1-173884010-A-T
• gnomAD v3: 1-173914872-A-T
• gnomAD v4: 1-173914872-A-T
• MyVariant Identifiers: chr1:g.173884010A>T (hg19) ; chr1:g.173914872A>T (hg38)
• PubMed: PMID:1483705 ; PMID:1977621 ; PMID:3472589
• ERepo: CA325653/MONDO:0013144/084

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914872A>T , CM000663.2:g.173914872A>T	GRCh38
NC_000001.10:g.173884010A>T , CM000663.1:g.173884010A>T	GRCh37
NC_000001.9:g.172150633A>T	NCBI36
NG_012462.1:g.7507T>A , LRG_577:g.7507T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.89T>A MANE Select	ENSP00000356671.3:p.Val30Glu
ENST00000367698.3:c.89T>A	ENSP00000356671.3:p.Val30Glu
ENST00000494024.1:n.315T>A
ENST00000617423.4:c.89T>A	ENSP00000478688.1:p.Val30Glu
NM_000488.3:c.89T>A , LRG_577t1:c.89T>A	NP_000479.1:p.Val30Glu
XM_005245198.2:c.-56T>A	XP_005245255.1:n.-56T>A
NM_001365052.1:c.-56T>A	NP_001351981.1:n.-56T>A
NM_000488.4:c.89T>A MANE Select	NP_000479.1:p.Val30Glu
NM_001365052.2:c.-56T>A	NP_001351981.1:n.-56T>A
NM_001386302.1:c.89T>A	NP_001373231.1:p.Val30Glu
NM_001386303.1:c.170T>A	NP_001373232.1:p.Val57Glu
NM_001386304.1:c.89T>A	NP_001373233.1:p.Val30Glu
NM_001386305.1:c.89T>A	NP_001373234.1:p.Val30Glu
NM_001386306.1:c.89T>A	NP_001373235.1:p.Val30Glu