Canonical Allele Identifier: CA1251289

Gene: SERPINC1

Linked Data

• dbSNP Id: rs758316459
• ExAC: 1:173878782 C / T
• gnomAD: 1:173878782 C / T
• MyVariant Identifiers: chr1:g.173878782C>T (hg19) ; chr1:g.173909644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909644C>T , CM000663.2:g.173909644C>T	GRCh38
NC_000001.10:g.173878782C>T , CM000663.1:g.173878782C>T	GRCh37
NC_000001.9:g.172145405C>T	NCBI36
NG_012462.1:g.12735G>A , LRG_577:g.12735G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1061G>A MANE Select	ENSP00000356671.3:p.Arg354His
ENST00000367698.3:c.1061G>A	ENSP00000356671.3:p.Arg354His
ENST00000617423.4:c.560-2151G>A	ENSP00000478688.1:p.=
NM_000488.3:c.1061G>A , LRG_577t1:c.1061G>A	NP_000479.1:p.Arg354His
XM_005245198.2:c.917G>A	XP_005245255.1:p.Arg306His
NM_001365052.1:c.917G>A	NP_001351981.1:p.Arg306His
NM_000488.4:c.1061G>A MANE Select	NP_000479.1:p.Arg354His
NM_001365052.2:c.917G>A	NP_001351981.1:p.Arg306His
NM_001386302.1:c.1184G>A	NP_001373231.1:p.Arg395His
NM_001386303.1:c.1142G>A	NP_001373232.1:p.Arg381His
NM_001386304.1:c.1040G>A	NP_001373233.1:p.Arg347His
NM_001386305.1:c.1004G>A	NP_001373234.1:p.Arg335His
NM_001386306.1:c.845G>A	NP_001373235.1:p.Arg282His