Canonical Allele Identifier: CA343775292
Community Standard Title: NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173910764A>G , CM000663.2:g.173910764A>G GRCh38
NC_000001.10:g.173879902A>G , CM000663.1:g.173879902A>G GRCh37
NC_000001.9:g.172146525A>G NCBI36
NG_012462.1:g.11615T>C , LRG_577:g.11615T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000488.4:c.752T>C MANE Select NP_000479.1:p.Ile251Thr
ENST00000367698.4:c.752T>C MANE Select ENSP00000356671.3:p.Ile251Thr
NM_000488.3:c.752T>C , LRG_577t1:c.752T>C NP_000479.1:p.Ile251Thr
NM_001365052.1:c.608T>C NP_001351981.1:p.Ile203Thr
NM_001365052.2:c.608T>C NP_001351981.1:p.Ile203Thr
NM_001386302.1:c.752T>C NP_001373231.1:p.Ile251Thr
NM_001386303.1:c.833T>C NP_001373232.1:p.Ile278Thr
NM_001386304.1:c.741+11T>C NP_001373233.1:n.741+11T>C
NM_001386305.1:c.752T>C NP_001373234.1:p.Ile251Thr
NM_001386306.1:c.536T>C NP_001373235.1:p.Ile179Thr
ENST00000367698.3:c.752T>C ENSP00000356671.3:p.Ile251Thr
ENST00000487183.1:n.403T>C
ENST00000617423.4:c.559+1100T>C ENSP00000478688.1:n.559+1100T>C
XM_005245198.2:c.608T>C XP_005245255.1:p.Ile203Thr