Canonical Allele Identifier: CA210758
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18014
dbSNP Id: rs121909552
COSMIC: COSM899818

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