Canonical Allele Identifier: CA421942895
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1657677954
MyVariant Identifiers: chr1:g.173878801G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909663G>A , CM000663.2:g.173909663G>A GRCh38
NC_000001.10:g.173878801G>A , CM000663.1:g.173878801G>A GRCh37
NC_000001.9:g.172145424G>A NCBI36
NG_012462.1:g.12716C>T , LRG_577:g.12716C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.1042C>T MANE Select ENSP00000356671.3:p.Leu348=
ENST00000367698.3:c.1042C>T ENSP00000356671.3:p.Leu348=
ENST00000617423.4:c.560-2170C>T ENSP00000478688.1:n.560-2170C>T
NM_000488.3:c.1042C>T , LRG_577t1:c.1042C>T NP_000479.1:p.Leu348=
XM_005245198.2:c.898C>T XP_005245255.1:p.Leu300=
NM_001365052.1:c.898C>T NP_001351981.1:p.Leu300=
NM_000488.4:c.1042C>T MANE Select NP_000479.1:p.Leu348=
NM_001365052.2:c.898C>T NP_001351981.1:p.Leu300=
NM_001386302.1:c.1165C>T NP_001373231.1:p.Leu389=
NM_001386303.1:c.1123C>T NP_001373232.1:p.Leu375=
NM_001386304.1:c.1021C>T NP_001373233.1:p.Leu341=
NM_001386305.1:c.985C>T NP_001373234.1:p.Leu329=
NM_001386306.1:c.826C>T NP_001373235.1:p.Leu276=