Canonical Allele Identifier: CA1251292

Gene: SERPINC1

Linked Data

• dbSNP Id: rs758801372
• ExAC: 1:173878806 A / G
• gnomAD v2: 1-173878806-A-G
• gnomAD v3: 1-173909668-A-G
• gnomAD v4: 1-173909668-A-G
• MyVariant Identifiers: chr1:g.173878806A>G (hg19) ; chr1:g.173909668A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909668A>G , CM000663.2:g.173909668A>G	GRCh38
NC_000001.10:g.173878806A>G , CM000663.1:g.173878806A>G	GRCh37
NC_000001.9:g.172145429A>G	NCBI36
NG_012462.1:g.12711T>C , LRG_577:g.12711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1037T>C MANE Select	ENSP00000356671.3:p.Met346Thr
ENST00000367698.3:c.1037T>C	ENSP00000356671.3:p.Met346Thr
ENST00000617423.4:c.560-2175T>C	ENSP00000478688.1:n.560-2175T>C
NM_000488.3:c.1037T>C , LRG_577t1:c.1037T>C	NP_000479.1:p.Met346Thr
XM_005245198.2:c.893T>C	XP_005245255.1:p.Met298Thr
NM_001365052.1:c.893T>C	NP_001351981.1:p.Met298Thr
NM_000488.4:c.1037T>C MANE Select	NP_000479.1:p.Met346Thr
NM_001365052.2:c.893T>C	NP_001351981.1:p.Met298Thr
NM_001386302.1:c.1160T>C	NP_001373231.1:p.Met387Thr
NM_001386303.1:c.1118T>C	NP_001373232.1:p.Met373Thr
NM_001386304.1:c.1016T>C	NP_001373233.1:p.Met339Thr
NM_001386305.1:c.980T>C	NP_001373234.1:p.Met327Thr
NM_001386306.1:c.821T>C	NP_001373235.1:p.Met274Thr