Canonical Allele Identifier: CA1251214

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2155880
• ClinVar RCV Id: RCV003083995
• dbSNP Id: rs758603270
• ExAC: 1:173873067 A / G
• gnomAD v2: 1-173873067-A-G
• MyVariant Identifiers: chr1:g.173873067A>G (hg19) ; chr1:g.173903929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903929A>G , CM000663.2:g.173903929A>G	GRCh38
NC_000001.10:g.173873067A>G , CM000663.1:g.173873067A>G	GRCh37
NC_000001.9:g.172139690A>G	NCBI36
NG_012462.1:g.18450T>C , LRG_577:g.18450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1355T>C MANE Select	ENSP00000356671.3:p.Ile452Thr
ENST00000367698.3:c.1355T>C	ENSP00000356671.3:p.Ile452Thr
ENST00000617423.4:c.740T>C	ENSP00000478688.1:p.Ile247Thr
NM_000488.3:c.1355T>C , LRG_577t1:c.1355T>C	NP_000479.1:p.Ile452Thr
XM_005245198.2:c.1211T>C	XP_005245255.1:p.Ile404Thr
NM_001365052.1:c.1211T>C	NP_001351981.1:p.Ile404Thr
NM_000488.4:c.1355T>C MANE Select	NP_000479.1:p.Ile452Thr
NM_001365052.2:c.1211T>C	NP_001351981.1:p.Ile404Thr
NM_001386302.1:c.1478T>C	NP_001373231.1:p.Ile493Thr
NM_001386303.1:c.1436T>C	NP_001373232.1:p.Ile479Thr
NM_001386304.1:c.1334T>C	NP_001373233.1:p.Ile445Thr
NM_001386305.1:c.1298T>C	NP_001373234.1:p.Ile433Thr
NM_001386306.1:c.1139T>C	NP_001373235.1:p.Ile380Thr