Canonical Allele Identifier: CA343778357

Gene: SERPINC1

Linked Data

• dbSNP Id: rs145771113
• gnomAD v2: 1-173883987-C-G
• gnomAD v4: 1-173914849-C-G
• MyVariant Identifiers: chr1:g.173883987C>G (hg19) ; chr1:g.173914849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914849C>G , CM000663.2:g.173914849C>G	GRCh38
NC_000001.10:g.173883987C>G , CM000663.1:g.173883987C>G	GRCh37
NC_000001.9:g.172150610C>G	NCBI36
NG_012462.1:g.7530G>C , LRG_577:g.7530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.112G>C MANE Select	ENSP00000356671.3:p.Asp38His
ENST00000367698.3:c.112G>C	ENSP00000356671.3:p.Asp38His
ENST00000494024.1:n.338G>C
ENST00000617423.4:c.112G>C	ENSP00000478688.1:p.Asp38His
NM_000488.3:c.112G>C , LRG_577t1:c.112G>C	NP_000479.1:p.Asp38His
XM_005245198.2:c.-33G>C	XP_005245255.1:n.-33G>C
NM_001365052.1:c.-33G>C	NP_001351981.1:n.-33G>C
NM_000488.4:c.112G>C MANE Select	NP_000479.1:p.Asp38His
NM_001365052.2:c.-33G>C	NP_001351981.1:n.-33G>C
NM_001386302.1:c.112G>C	NP_001373231.1:p.Asp38His
NM_001386303.1:c.193G>C	NP_001373232.1:p.Asp65His
NM_001386304.1:c.112G>C	NP_001373233.1:p.Asp38His
NM_001386305.1:c.112G>C	NP_001373234.1:p.Asp38His
NM_001386306.1:c.112G>C	NP_001373235.1:p.Asp38His