Canonical Allele Identifier: CA343773912

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1398879157
• gnomAD v2: 1-173878840-C-T
• gnomAD v4: 1-173909702-C-T
• MyVariant Identifiers: chr1:g.173878840C>T (hg19) ; chr1:g.173909702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909702C>T , CM000663.2:g.173909702C>T	GRCh38
NC_000001.10:g.173878840C>T , CM000663.1:g.173878840C>T	GRCh37
NC_000001.9:g.172145463C>T	NCBI36
NG_012462.1:g.12677G>A , LRG_577:g.12677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1003G>A MANE Select	ENSP00000356671.3:p.Val335Met
ENST00000367698.3:c.1003G>A	ENSP00000356671.3:p.Val335Met
ENST00000617423.4:c.559+2162G>A	ENSP00000478688.1:n.559+2162G>A
NM_000488.3:c.1003G>A , LRG_577t1:c.1003G>A	NP_000479.1:p.Val335Met
XM_005245198.2:c.859G>A	XP_005245255.1:p.Val287Met
NM_001365052.1:c.859G>A	NP_001351981.1:p.Val287Met
NM_000488.4:c.1003G>A MANE Select	NP_000479.1:p.Val335Met
NM_001365052.2:c.859G>A	NP_001351981.1:p.Val287Met
NM_001386302.1:c.1126G>A	NP_001373231.1:p.Val376Met
NM_001386303.1:c.1084G>A	NP_001373232.1:p.Val362Met
NM_001386304.1:c.982G>A	NP_001373233.1:p.Val328Met
NM_001386305.1:c.946G>A	NP_001373234.1:p.Val316Met
NM_001386306.1:c.787G>A	NP_001373235.1:p.Val263Met