Canonical Allele Identifier: CA10608814

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 293837
• ClinVar RCV Id: RCV000375162
• dbSNP Id: rs886045594
• MyVariant Identifiers: chr1:g.173878789T>C (hg19) ; chr1:g.173909651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909651T>C , CM000663.2:g.173909651T>C	GRCh38
NC_000001.10:g.173878789T>C , CM000663.1:g.173878789T>C	GRCh37
NC_000001.9:g.172145412T>C	NCBI36
NG_012462.1:g.12728A>G , LRG_577:g.12728A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1054A>G MANE Select	ENSP00000356671.3:p.Met352Val
ENST00000367698.3:c.1054A>G	ENSP00000356671.3:p.Met352Val
ENST00000617423.4:c.560-2158A>G	ENSP00000478688.1:p.=
NM_000488.3:c.1054A>G , LRG_577t1:c.1054A>G	NP_000479.1:p.Met352Val
XM_005245198.2:c.910A>G	XP_005245255.1:p.Met304Val
NM_001365052.1:c.910A>G	NP_001351981.1:p.Met304Val
NM_000488.4:c.1054A>G MANE Select	NP_000479.1:p.Met352Val
NM_001365052.2:c.910A>G	NP_001351981.1:p.Met304Val
NM_001386302.1:c.1177A>G	NP_001373231.1:p.Met393Val
NM_001386303.1:c.1135A>G	NP_001373232.1:p.Met379Val
NM_001386304.1:c.1033A>G	NP_001373233.1:p.Met345Val
NM_001386305.1:c.997A>G	NP_001373234.1:p.Met333Val
NM_001386306.1:c.838A>G	NP_001373235.1:p.Met280Val