Canonical Allele Identifier: CA343774395
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1657689622
gnomAD v3: 1-173909821-A-C
gnomAD v4: 1-173909821-A-C
MyVariant Identifiers: chr1:g.173878959A>C (hg19) chr1:g.173909821A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909821A>C , CM000663.2:g.173909821A>C GRCh38
NC_000001.10:g.173878959A>C , CM000663.1:g.173878959A>C GRCh37
NC_000001.9:g.172145582A>C NCBI36
NG_012462.1:g.12558T>G , LRG_577:g.12558T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.884T>G MANE Select ENSP00000356671.3:p.Val295Gly
ENST00000367698.3:c.884T>G ENSP00000356671.3:p.Val295Gly
ENST00000487183.1:n.535T>G
ENST00000617423.4:c.559+2043T>G ENSP00000478688.1:n.559+2043T>G
NM_000488.3:c.884T>G , LRG_577t1:c.884T>G NP_000479.1:p.Val295Gly
XM_005245198.2:c.740T>G XP_005245255.1:p.Val247Gly
NM_001365052.1:c.740T>G NP_001351981.1:p.Val247Gly
NM_000488.4:c.884T>G MANE Select NP_000479.1:p.Val295Gly
NM_001365052.2:c.740T>G NP_001351981.1:p.Val247Gly
NM_001386302.1:c.1007T>G NP_001373231.1:p.Val336Gly
NM_001386303.1:c.965T>G NP_001373232.1:p.Val322Gly
NM_001386304.1:c.863T>G NP_001373233.1:p.Val288Gly
NM_001386305.1:c.827T>G NP_001373234.1:p.Val276Gly
NM_001386306.1:c.668T>G NP_001373235.1:p.Val223Gly
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