Canonical Allele Identifier: CA1251217
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 874662
ClinVar RCV Id: RCV001097813
dbSNP Id: rs376029223

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903942G>A , CM000663.2:g.173903942G>A GRCh38
NC_000001.10:g.173873080G>A , CM000663.1:g.173873080G>A GRCh37
NC_000001.9:g.172139703G>A NCBI36
NG_012462.1:g.18437C>T , LRG_577:g.18437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1342C>T MANE Select ENSP00000356671.3:p.Pro448Ser
ENST00000367698.3:c.1342C>T ENSP00000356671.3:p.Pro448Ser
ENST00000617423.4:c.727C>T ENSP00000478688.1:p.Pro243Ser
NM_000488.3:c.1342C>T , LRG_577t1:c.1342C>T NP_000479.1:p.Pro448Ser
XM_005245198.2:c.1198C>T XP_005245255.1:p.Pro400Ser
NM_001365052.1:c.1198C>T NP_001351981.1:p.Pro400Ser
NM_000488.4:c.1342C>T MANE Select NP_000479.1:p.Pro448Ser
NM_001365052.2:c.1198C>T NP_001351981.1:p.Pro400Ser
NM_001386302.1:c.1465C>T NP_001373231.1:p.Pro489Ser
NM_001386303.1:c.1423C>T NP_001373232.1:p.Pro475Ser
NM_001386304.1:c.1321C>T NP_001373233.1:p.Pro441Ser
NM_001386305.1:c.1285C>T NP_001373234.1:p.Pro429Ser
NM_001386306.1:c.1126C>T NP_001373235.1:p.Pro376Ser