Canonical Allele Identifier: CA1251397

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 529743
• ClinVar RCV Id: RCV000635205
• dbSNP Id: rs183416252
• ExAC: 1:173880967 A / G
• gnomAD v2: 1-173880967-A-G
• gnomAD v3: 1-173911829-A-G
• gnomAD v4: 1-173911829-A-G
• COSMIC: COSM677069
• MyVariant Identifiers: chr1:g.173880967A>G (hg19) ; chr1:g.173911829A>G (hg38)
• ERepo: CA1251397/MONDO:0013144/084

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911829A>G , CM000663.2:g.173911829A>G	GRCh38
NC_000001.10:g.173880967A>G , CM000663.1:g.173880967A>G	GRCh37
NC_000001.9:g.172147590A>G	NCBI36
NG_012462.1:g.10550T>C , LRG_577:g.10550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.594T>C MANE Select	ENSP00000356671.3:p.Tyr198=
ENST00000367698.3:c.594T>C	ENSP00000356671.3:p.Tyr198=
ENST00000487183.1:n.299T>C
ENST00000617423.4:c.559+35T>C	ENSP00000478688.1:n.559+35T>C
NM_000488.3:c.594T>C , LRG_577t1:c.594T>C	NP_000479.1:p.Tyr198=
XM_005245198.2:c.450T>C	XP_005245255.1:p.Tyr150=
NM_001365052.1:c.450T>C	NP_001351981.1:p.Tyr150=
NM_000488.4:c.594T>C MANE Select	NP_000479.1:p.Tyr198=
NM_001365052.2:c.450T>C	NP_001351981.1:p.Tyr150=
NM_001386302.1:c.594T>C	NP_001373231.1:p.Tyr198=
NM_001386303.1:c.675T>C	NP_001373232.1:p.Tyr225=
NM_001386304.1:c.594T>C	NP_001373233.1:p.Tyr198=
NM_001386305.1:c.594T>C	NP_001373234.1:p.Tyr198=
NM_001386306.1:c.409-938T>C	NP_001373235.1:n.409-938T>C