Canonical Allele Identifier: CA343772490
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173903990-C-T
MyVariant Identifiers: chr1:g.173873128C>T (hg19) chr1:g.173903990C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903990C>T , CM000663.2:g.173903990C>T GRCh38
NC_000001.10:g.173873128C>T , CM000663.1:g.173873128C>T GRCh37
NC_000001.9:g.172139751C>T NCBI36
NG_012462.1:g.18389G>A , LRG_577:g.18389G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1294G>A MANE Select ENSP00000356671.3:p.Val432Met
ENST00000367698.3:c.1294G>A ENSP00000356671.3:p.Val432Met
ENST00000617423.4:c.679G>A ENSP00000478688.1:p.Val227Met
NM_000488.3:c.1294G>A , LRG_577t1:c.1294G>A NP_000479.1:p.Val432Met
XM_005245198.2:c.1150G>A XP_005245255.1:p.Val384Met
NM_001365052.1:c.1150G>A NP_001351981.1:p.Val384Met
NM_000488.4:c.1294G>A MANE Select NP_000479.1:p.Val432Met
NM_001365052.2:c.1150G>A NP_001351981.1:p.Val384Met
NM_001386302.1:c.1417G>A NP_001373231.1:p.Val473Met
NM_001386303.1:c.1375G>A NP_001373232.1:p.Val459Met
NM_001386304.1:c.1273G>A NP_001373233.1:p.Val425Met
NM_001386305.1:c.1237G>A NP_001373234.1:p.Val413Met
NM_001386306.1:c.1078G>A NP_001373235.1:p.Val360Met
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