Canonical Allele Identifier: CA210776
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18029
ClinVar RCV Id: RCV000019645 RCV001588819
dbSNP Id: rs121909562
gnomAD v4: 1-173911942-G-A
MyVariant Identifiers: chr1:g.173881080G>A (hg19) chr1:g.173911942G>A (hg38)
PubMed: PMID:1873224 PMID:2602168
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173911942G>A , CM000663.2:g.173911942G>A GRCh38
NC_000001.10:g.173881080G>A , CM000663.1:g.173881080G>A GRCh37
NC_000001.9:g.172147703G>A NCBI36
NG_012462.1:g.10437C>T , LRG_577:g.10437C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.481C>T MANE Select ENSP00000356671.3:p.Arg161Ter
ENST00000367698.3:c.481C>T ENSP00000356671.3:p.Arg161Ter
ENST00000487183.1:n.186C>T
ENST00000617423.4:c.481C>T ENSP00000478688.1:p.Arg161Ter
NM_000488.3:c.481C>T , LRG_577t1:c.481C>T NP_000479.1:p.Arg161Ter
XM_005245198.2:c.337C>T XP_005245255.1:p.Arg113Ter
NM_001365052.1:c.337C>T NP_001351981.1:p.Arg113Ter
NM_000488.4:c.481C>T MANE Select NP_000479.1:p.Arg161Ter
NM_001365052.2:c.337C>T NP_001351981.1:p.Arg113Ter
NM_001386302.1:c.481C>T NP_001373231.1:p.Arg161Ter
NM_001386303.1:c.562C>T NP_001373232.1:p.Arg188Ter
NM_001386304.1:c.481C>T NP_001373233.1:p.Arg161Ter
NM_001386305.1:c.481C>T NP_001373234.1:p.Arg161Ter
NM_001386306.1:c.409-1051C>T NP_001373235.1:n.409-1051C>T
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