Canonical Allele Identifier: CA1251277

Gene: SERPINC1

Linked Data

• dbSNP Id: rs745578147
• ExAC: 1:173878706 T / C
• gnomAD v2: 1-173878706-T-C
• gnomAD v4: 1-173909568-T-C
• MyVariant Identifiers: chr1:g.173878706T>C (hg19) ; chr1:g.173909568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909568T>C , CM000663.2:g.173909568T>C	GRCh38
NC_000001.10:g.173878706T>C , CM000663.1:g.173878706T>C	GRCh37
NC_000001.9:g.172145329T>C	NCBI36
NG_012462.1:g.12811A>G , LRG_577:g.12811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1137A>G MANE Select	ENSP00000356671.3:p.Glu379=
ENST00000367698.3:c.1137A>G	ENSP00000356671.3:p.Glu379=
ENST00000617423.4:c.560-2075A>G	ENSP00000478688.1:n.560-2075A>G
NM_000488.3:c.1137A>G , LRG_577t1:c.1137A>G	NP_000479.1:p.Glu379=
XM_005245198.2:c.993A>G	XP_005245255.1:p.Glu331=
NM_001365052.1:c.993A>G	NP_001351981.1:p.Glu331=
NM_000488.4:c.1137A>G MANE Select	NP_000479.1:p.Glu379=
NM_001365052.2:c.993A>G	NP_001351981.1:p.Glu331=
NM_001386302.1:c.1260A>G	NP_001373231.1:p.Glu420=
NM_001386303.1:c.1218A>G	NP_001373232.1:p.Glu406=
NM_001386304.1:c.1116A>G	NP_001373233.1:p.Glu372=
NM_001386305.1:c.1080A>G	NP_001373234.1:p.Glu360=
NM_001386306.1:c.921A>G	NP_001373235.1:p.Glu307=