Canonical Allele Identifier: CA343774592
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1572088756
MyVariant Identifiers: chr1:g.173879005A>G (hg19) chr1:g.173909867A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909867A>G , CM000663.2:g.173909867A>G GRCh38
NC_000001.10:g.173879005A>G , CM000663.1:g.173879005A>G GRCh37
NC_000001.9:g.172145628A>G NCBI36
NG_012462.1:g.12512T>C , LRG_577:g.12512T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.838T>C MANE Select ENSP00000356671.3:p.Ser280Pro
ENST00000367698.3:c.838T>C ENSP00000356671.3:p.Ser280Pro
ENST00000487183.1:n.489T>C
ENST00000617423.4:c.559+1997T>C ENSP00000478688.1:n.559+1997T>C
NM_000488.3:c.838T>C , LRG_577t1:c.838T>C NP_000479.1:p.Ser280Pro
XM_005245198.2:c.694T>C XP_005245255.1:p.Ser232Pro
NM_001365052.1:c.694T>C NP_001351981.1:p.Ser232Pro
NM_000488.4:c.838T>C MANE Select NP_000479.1:p.Ser280Pro
NM_001365052.2:c.694T>C NP_001351981.1:p.Ser232Pro
NM_001386302.1:c.961T>C NP_001373231.1:p.Ser321Pro
NM_001386303.1:c.919T>C NP_001373232.1:p.Ser307Pro
NM_001386304.1:c.817T>C NP_001373233.1:p.Ser273Pro
NM_001386305.1:c.781T>C NP_001373234.1:p.Ser261Pro
NM_001386306.1:c.622T>C NP_001373235.1:p.Ser208Pro
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