Canonical Allele Identifier: CA343772365
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 529741
ClinVar RCV Id: RCV000635203 RCV000852018
dbSNP Id: rs1487411568
COSMIC: COSM899809
MyVariant Identifiers: chr1:g.173873107G>A (hg19) chr1:g.173903969G>A (hg38)
ERepo: CA343772365/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903969G>A , CM000663.2:g.173903969G>A GRCh38
NC_000001.10:g.173873107G>A , CM000663.1:g.173873107G>A GRCh37
NC_000001.9:g.172139730G>A NCBI36
NG_012462.1:g.18410C>T , LRG_577:g.18410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1315C>T MANE Select ENSP00000356671.3:p.Pro439Ser
ENST00000367698.3:c.1315C>T ENSP00000356671.3:p.Pro439Ser
ENST00000617423.4:c.700C>T ENSP00000478688.1:p.Pro234Ser
NM_000488.3:c.1315C>T , LRG_577t1:c.1315C>T NP_000479.1:p.Pro439Ser
XM_005245198.2:c.1171C>T XP_005245255.1:p.Pro391Ser
NM_001365052.1:c.1171C>T NP_001351981.1:p.Pro391Ser
NM_000488.4:c.1315C>T MANE Select NP_000479.1:p.Pro439Ser
NM_001365052.2:c.1171C>T NP_001351981.1:p.Pro391Ser
NM_001386302.1:c.1438C>T NP_001373231.1:p.Pro480Ser
NM_001386303.1:c.1396C>T NP_001373232.1:p.Pro466Ser
NM_001386304.1:c.1294C>T NP_001373233.1:p.Pro432Ser
NM_001386305.1:c.1258C>T NP_001373234.1:p.Pro420Ser
NM_001386306.1:c.1099C>T NP_001373235.1:p.Pro367Ser
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