Canonical Allele Identifier: CA210762
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18016
ClinVar RCV Id: RCV000019632
dbSNP Id: rs121909554

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904011G>A , CM000663.2:g.173904011G>A GRCh38
NC_000001.10:g.173873149G>A , CM000663.1:g.173873149G>A GRCh37
NC_000001.9:g.172139772G>A NCBI36
NG_012462.1:g.18368C>T , LRG_577:g.18368C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.3:c.1273C>T ENSP00000356671.3:p.Arg425Cys
ENST00000617423.4:c.658C>T ENSP00000478688.1:p.Arg220Cys
NM_000488.3:c.1273C>T , LRG_577t1:c.1273C>T NP_000479.1:p.Arg425Cys
XM_005245198.2:c.1129C>T XP_005245255.1:p.Arg377Cys
NM_001365052.1:c.1129C>T NP_001351981.1:p.Arg377Cys
NM_000488.4:c.1273C>T MANE Select NP_000479.1:p.Arg425Cys
NM_001365052.2:c.1129C>T NP_001351981.1:p.Arg377Cys
NM_001386302.1:c.1396C>T NP_001373231.1:p.Arg466Cys
NM_001386303.1:c.1354C>T NP_001373232.1:p.Arg452Cys
NM_001386304.1:c.1252C>T NP_001373233.1:p.Arg418Cys
NM_001386305.1:c.1216C>T NP_001373234.1:p.Arg406Cys
NM_001386306.1:c.1057C>T NP_001373235.1:p.Arg353Cys