Canonical Allele Identifier: CA1251332
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410383
ClinVar RCV Id: RCV000471250 RCV003480641
dbSNP Id: rs758087836
ExAC: 1:173879038 C / T
gnomAD v2: 1-173879038-C-T
gnomAD v3: 1-173909900-C-T
gnomAD v4: 1-173909900-C-T
MyVariant Identifiers: chr1:g.173879038C>T (hg19) chr1:g.173909900C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909900C>T , CM000663.2:g.173909900C>T GRCh38
NC_000001.10:g.173879038C>T , CM000663.1:g.173879038C>T GRCh37
NC_000001.9:g.172145661C>T NCBI36
NG_012462.1:g.12479G>A , LRG_577:g.12479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.805G>A MANE Select ENSP00000356671.3:p.Glu269Lys
ENST00000367698.3:c.805G>A ENSP00000356671.3:p.Glu269Lys
ENST00000487183.1:n.456G>A
ENST00000617423.4:c.559+1964G>A ENSP00000478688.1:n.559+1964G>A
NM_000488.3:c.805G>A , LRG_577t1:c.805G>A NP_000479.1:p.Glu269Lys
XM_005245198.2:c.661G>A XP_005245255.1:p.Glu221Lys
NM_001365052.1:c.661G>A NP_001351981.1:p.Glu221Lys
NM_000488.4:c.805G>A MANE Select NP_000479.1:p.Glu269Lys
NM_001365052.2:c.661G>A NP_001351981.1:p.Glu221Lys
NM_001386302.1:c.928G>A NP_001373231.1:p.Glu310Lys
NM_001386303.1:c.886G>A NP_001373232.1:p.Glu296Lys
NM_001386304.1:c.784G>A NP_001373233.1:p.Glu262Lys
NM_001386305.1:c.763-15G>A NP_001373234.1:n.763-15G>A
NM_001386306.1:c.589G>A NP_001373235.1:p.Glu197Lys
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