Canonical Allele Identifier: CA210793
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18040
ClinVar RCV Id: RCV000019656
dbSNP Id: rs387906575

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914893A>G , CM000663.2:g.173914893A>G GRCh38
NC_000001.10:g.173884031A>G , CM000663.1:g.173884031A>G GRCh37
NC_000001.9:g.172150654A>G NCBI36
NG_012462.1:g.7486T>C , LRG_577:g.7486T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.68T>C MANE Select ENSP00000356671.3:p.Leu23Pro
ENST00000367698.3:c.68T>C ENSP00000356671.3:p.Leu23Pro
ENST00000494024.1:n.294T>C
ENST00000617423.4:c.68T>C ENSP00000478688.1:p.Leu23Pro
NM_000488.3:c.68T>C , LRG_577t1:c.68T>C NP_000479.1:p.Leu23Pro
XM_005245198.2:c.-77T>C XP_005245255.1:n.-77T>C
NM_001365052.1:c.-77T>C NP_001351981.1:n.-77T>C
NM_000488.4:c.68T>C MANE Select NP_000479.1:p.Leu23Pro
NM_001365052.2:c.-77T>C NP_001351981.1:n.-77T>C
NM_001386302.1:c.68T>C NP_001373231.1:p.Leu23Pro
NM_001386303.1:c.149T>C NP_001373232.1:p.Leu50Pro
NM_001386304.1:c.68T>C NP_001373233.1:p.Leu23Pro
NM_001386305.1:c.68T>C NP_001373234.1:p.Leu23Pro
NM_001386306.1:c.68T>C NP_001373235.1:p.Leu23Pro