Canonical Allele Identifier: CA1251280

Gene: SERPINC1

Linked Data

• dbSNP Id: rs762780270
• ExAC: 1:173878738 C / T
• gnomAD v2: 1-173878738-C-T
• MyVariant Identifiers: chr1:g.173878738C>T (hg19) ; chr1:g.173909600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909600C>T , CM000663.2:g.173909600C>T	GRCh38
NC_000001.10:g.173878738C>T , CM000663.1:g.173878738C>T	GRCh37
NC_000001.9:g.172145361C>T	NCBI36
NG_012462.1:g.12779G>A , LRG_577:g.12779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1105G>A MANE Select	ENSP00000356671.3:p.Asp369Asn
ENST00000367698.3:c.1105G>A	ENSP00000356671.3:p.Asp369Asn
ENST00000617423.4:c.560-2107G>A	ENSP00000478688.1:n.560-2107G>A
NM_000488.3:c.1105G>A , LRG_577t1:c.1105G>A	NP_000479.1:p.Asp369Asn
XM_005245198.2:c.961G>A	XP_005245255.1:p.Asp321Asn
NM_001365052.1:c.961G>A	NP_001351981.1:p.Asp321Asn
NM_000488.4:c.1105G>A MANE Select	NP_000479.1:p.Asp369Asn
NM_001365052.2:c.961G>A	NP_001351981.1:p.Asp321Asn
NM_001386302.1:c.1228G>A	NP_001373231.1:p.Asp410Asn
NM_001386303.1:c.1186G>A	NP_001373232.1:p.Asp396Asn
NM_001386304.1:c.1084G>A	NP_001373233.1:p.Asp362Asn
NM_001386305.1:c.1048G>A	NP_001373234.1:p.Asp350Asn
NM_001386306.1:c.889G>A	NP_001373235.1:p.Asp297Asn