Canonical Allele Identifier: CA343773985
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1300143747
MyVariant Identifiers: chr1:g.173878858T>G (hg19) chr1:g.173909720T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909720T>G , CM000663.2:g.173909720T>G GRCh38
NC_000001.10:g.173878858T>G , CM000663.1:g.173878858T>G GRCh37
NC_000001.9:g.172145481T>G NCBI36
NG_012462.1:g.12659A>C , LRG_577:g.12659A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.985A>C MANE Select ENSP00000356671.3:p.Lys329Gln
ENST00000367698.3:c.985A>C ENSP00000356671.3:p.Lys329Gln
ENST00000617423.4:c.559+2144A>C ENSP00000478688.1:n.559+2144A>C
NM_000488.3:c.985A>C , LRG_577t1:c.985A>C NP_000479.1:p.Lys329Gln
XM_005245198.2:c.841A>C XP_005245255.1:p.Lys281Gln
NM_001365052.1:c.841A>C NP_001351981.1:p.Lys281Gln
NM_000488.4:c.985A>C MANE Select NP_000479.1:p.Lys329Gln
NM_001365052.2:c.841A>C NP_001351981.1:p.Lys281Gln
NM_001386302.1:c.1108A>C NP_001373231.1:p.Lys370Gln
NM_001386303.1:c.1066A>C NP_001373232.1:p.Lys356Gln
NM_001386304.1:c.964A>C NP_001373233.1:p.Lys322Gln
NM_001386305.1:c.928A>C NP_001373234.1:p.Lys310Gln
NM_001386306.1:c.769A>C NP_001373235.1:p.Lys257Gln
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