Canonical Allele Identifier: CA1251298
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 293838
ClinVar RCV Id: RCV000349816
dbSNP Id: rs192187532

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909700C>T , CM000663.2:g.173909700C>T GRCh38
NC_000001.10:g.173878838C>T , CM000663.1:g.173878838C>T GRCh37
NC_000001.9:g.172145461C>T NCBI36
NG_012462.1:g.12679G>A , LRG_577:g.12679G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1005G>A MANE Select ENSP00000356671.3:p.Val335=
ENST00000367698.3:c.1005G>A ENSP00000356671.3:p.Val335=
ENST00000617423.4:c.559+2164G>A ENSP00000478688.1:n.559+2164G>A
NM_000488.3:c.1005G>A , LRG_577t1:c.1005G>A NP_000479.1:p.Val335=
XM_005245198.2:c.861G>A XP_005245255.1:p.Val287=
NM_001365052.1:c.861G>A NP_001351981.1:p.Val287=
NM_000488.4:c.1005G>A MANE Select NP_000479.1:p.Val335=
NM_001365052.2:c.861G>A NP_001351981.1:p.Val287=
NM_001386302.1:c.1128G>A NP_001373231.1:p.Val376=
NM_001386303.1:c.1086G>A NP_001373232.1:p.Val362=
NM_001386304.1:c.984G>A NP_001373233.1:p.Val328=
NM_001386305.1:c.948G>A NP_001373234.1:p.Val316=
NM_001386306.1:c.789G>A NP_001373235.1:p.Val263=