Canonical Allele Identifier: CA1251289
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2363552
ClinVar RCV Id: RCV002990193
dbSNP Id: rs758316459

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909644C>T , CM000663.2:g.173909644C>T GRCh38
NC_000001.10:g.173878782C>T , CM000663.1:g.173878782C>T GRCh37
NC_000001.9:g.172145405C>T NCBI36
NG_012462.1:g.12735G>A , LRG_577:g.12735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1061G>A MANE Select ENSP00000356671.3:p.Arg354His
ENST00000367698.3:c.1061G>A ENSP00000356671.3:p.Arg354His
ENST00000617423.4:c.560-2151G>A ENSP00000478688.1:n.560-2151G>A
NM_000488.3:c.1061G>A , LRG_577t1:c.1061G>A NP_000479.1:p.Arg354His
XM_005245198.2:c.917G>A XP_005245255.1:p.Arg306His
NM_001365052.1:c.917G>A NP_001351981.1:p.Arg306His
NM_000488.4:c.1061G>A MANE Select NP_000479.1:p.Arg354His
NM_001365052.2:c.917G>A NP_001351981.1:p.Arg306His
NM_001386302.1:c.1184G>A NP_001373231.1:p.Arg395His
NM_001386303.1:c.1142G>A NP_001373232.1:p.Arg381His
NM_001386304.1:c.1040G>A NP_001373233.1:p.Arg347His
NM_001386305.1:c.1004G>A NP_001373234.1:p.Arg335His
NM_001386306.1:c.845G>A NP_001373235.1:p.Arg282His