Canonical Allele Identifier: CA210781
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18031
ClinVar RCV Id: RCV000019647
dbSNP Id: rs121909564

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903902G>A , CM000663.2:g.173903902G>A GRCh38
NC_000001.10:g.173873040G>A , CM000663.1:g.173873040G>A GRCh37
NC_000001.9:g.172139663G>A NCBI36
NG_012462.1:g.18477C>T , LRG_577:g.18477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1382C>T MANE Select ENSP00000356671.3:p.Pro461Leu
ENST00000367698.3:c.1382C>T ENSP00000356671.3:p.Pro461Leu
ENST00000617423.4:c.767C>T ENSP00000478688.1:p.Pro256Leu
NM_000488.3:c.1382C>T , LRG_577t1:c.1382C>T NP_000479.1:p.Pro461Leu
XM_005245198.2:c.1238C>T XP_005245255.1:p.Pro413Leu
NM_001365052.1:c.1238C>T NP_001351981.1:p.Pro413Leu
NM_000488.4:c.1382C>T MANE Select NP_000479.1:p.Pro461Leu
NM_001365052.2:c.1238C>T NP_001351981.1:p.Pro413Leu
NM_001386302.1:c.1505C>T NP_001373231.1:p.Pro502Leu
NM_001386303.1:c.1463C>T NP_001373232.1:p.Pro488Leu
NM_001386304.1:c.1361C>T NP_001373233.1:p.Pro454Leu
NM_001386305.1:c.1325C>T NP_001373234.1:p.Pro442Leu
NM_001386306.1:c.1166C>T NP_001373235.1:p.Pro389Leu