Canonical Allele Identifier: CA210764
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18017
ClinVar RCV Id: RCV000019633
dbSNP Id: rs121909555

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903968G>A , CM000663.2:g.173903968G>A GRCh38
NC_000001.10:g.173873106G>A , CM000663.1:g.173873106G>A GRCh37
NC_000001.9:g.172139729G>A NCBI36
NG_012462.1:g.18411C>T , LRG_577:g.18411C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.3:c.1316C>T ENSP00000356671.3:p.Pro439Leu
ENST00000617423.4:c.701C>T ENSP00000478688.1:p.Pro234Leu
NM_000488.3:c.1316C>T , LRG_577t1:c.1316C>T NP_000479.1:p.Pro439Leu
XM_005245198.2:c.1172C>T XP_005245255.1:p.Pro391Leu
NM_001365052.1:c.1172C>T NP_001351981.1:p.Pro391Leu
NM_000488.4:c.1316C>T MANE Select NP_000479.1:p.Pro439Leu
NM_001365052.2:c.1172C>T NP_001351981.1:p.Pro391Leu
NM_001386302.1:c.1439C>T NP_001373231.1:p.Pro480Leu
NM_001386303.1:c.1397C>T NP_001373232.1:p.Pro466Leu
NM_001386304.1:c.1295C>T NP_001373233.1:p.Pro432Leu
NM_001386305.1:c.1259C>T NP_001373234.1:p.Pro420Leu
NM_001386306.1:c.1100C>T NP_001373235.1:p.Pro367Leu