Canonical Allele Identifier: CA343773558

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1205385856
• gnomAD v2: 1-173878735-T-C
• gnomAD v4: 1-173909597-T-C
• MyVariant Identifiers: chr1:g.173878735T>C (hg19) ; chr1:g.173909597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909597T>C , CM000663.2:g.173909597T>C	GRCh38
NC_000001.10:g.173878735T>C , CM000663.1:g.173878735T>C	GRCh37
NC_000001.9:g.172145358T>C	NCBI36
NG_012462.1:g.12782A>G , LRG_577:g.12782A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1108A>G MANE Select	ENSP00000356671.3:p.Met370Val
ENST00000367698.3:c.1108A>G	ENSP00000356671.3:p.Met370Val
ENST00000617423.4:c.560-2104A>G	ENSP00000478688.1:n.560-2104A>G
NM_000488.3:c.1108A>G , LRG_577t1:c.1108A>G	NP_000479.1:p.Met370Val
XM_005245198.2:c.964A>G	XP_005245255.1:p.Met322Val
NM_001365052.1:c.964A>G	NP_001351981.1:p.Met322Val
NM_000488.4:c.1108A>G MANE Select	NP_000479.1:p.Met370Val
NM_001365052.2:c.964A>G	NP_001351981.1:p.Met322Val
NM_001386302.1:c.1231A>G	NP_001373231.1:p.Met411Val
NM_001386303.1:c.1189A>G	NP_001373232.1:p.Met397Val
NM_001386304.1:c.1087A>G	NP_001373233.1:p.Met363Val
NM_001386305.1:c.1051A>G	NP_001373234.1:p.Met351Val
NM_001386306.1:c.892A>G	NP_001373235.1:p.Met298Val