Canonical Allele Identifier: CA343776228

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 627341
• ClinVar RCV Id: RCV000852166
• dbSNP Id: rs1572090114
• MyVariant Identifiers: chr1:g.173880969A>G (hg19) ; chr1:g.173911831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911831A>G , CM000663.2:g.173911831A>G	GRCh38
NC_000001.10:g.173880969A>G , CM000663.1:g.173880969A>G	GRCh37
NC_000001.9:g.172147592A>G	NCBI36
NG_012462.1:g.10548T>C , LRG_577:g.10548T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.592T>C MANE Select	ENSP00000356671.3:p.Tyr198His
ENST00000367698.3:c.592T>C	ENSP00000356671.3:p.Tyr198His
ENST00000487183.1:n.297T>C
ENST00000617423.4:c.559+33T>C	ENSP00000478688.1:n.559+33T>C
NM_000488.3:c.592T>C , LRG_577t1:c.592T>C	NP_000479.1:p.Tyr198His
XM_005245198.2:c.448T>C	XP_005245255.1:p.Tyr150His
NM_001365052.1:c.448T>C	NP_001351981.1:p.Tyr150His
NM_000488.4:c.592T>C MANE Select	NP_000479.1:p.Tyr198His
NM_001365052.2:c.448T>C	NP_001351981.1:p.Tyr150His
NM_001386302.1:c.592T>C	NP_001373231.1:p.Tyr198His
NM_001386303.1:c.673T>C	NP_001373232.1:p.Tyr225His
NM_001386304.1:c.592T>C	NP_001373233.1:p.Tyr198His
NM_001386305.1:c.592T>C	NP_001373234.1:p.Tyr198His
NM_001386306.1:c.409-940T>C	NP_001373235.1:n.409-940T>C