Canonical Allele Identifier: CA343776513

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1221281557
• gnomAD v2: 1-173881038-C-T
• gnomAD v4: 1-173911900-C-T
• MyVariant Identifiers: chr1:g.173881038C>T (hg19) ; chr1:g.173911900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911900C>T , CM000663.2:g.173911900C>T	GRCh38
NC_000001.10:g.173881038C>T , CM000663.1:g.173881038C>T	GRCh37
NC_000001.9:g.172147661C>T	NCBI36
NG_012462.1:g.10479G>A , LRG_577:g.10479G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.523G>A MANE Select	ENSP00000356671.3:p.Ala175Thr
ENST00000367698.3:c.523G>A	ENSP00000356671.3:p.Ala175Thr
ENST00000487183.1:n.228G>A
ENST00000617423.4:c.523G>A	ENSP00000478688.1:p.Ala175Thr
NM_000488.3:c.523G>A , LRG_577t1:c.523G>A	NP_000479.1:p.Ala175Thr
XM_005245198.2:c.379G>A	XP_005245255.1:p.Ala127Thr
NM_001365052.1:c.379G>A	NP_001351981.1:p.Ala127Thr
NM_000488.4:c.523G>A MANE Select	NP_000479.1:p.Ala175Thr
NM_001365052.2:c.379G>A	NP_001351981.1:p.Ala127Thr
NM_001386302.1:c.523G>A	NP_001373231.1:p.Ala175Thr
NM_001386303.1:c.604G>A	NP_001373232.1:p.Ala202Thr
NM_001386304.1:c.523G>A	NP_001373233.1:p.Ala175Thr
NM_001386305.1:c.523G>A	NP_001373234.1:p.Ala175Thr
NM_001386306.1:c.409-1009G>A	NP_001373235.1:n.409-1009G>A