Canonical Allele Identifier: CA1251293
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs780821947
ExAC: 1:173878813 C / T
gnomAD v2: 1-173878813-C-T
gnomAD v4: 1-173909675-C-T
MyVariant Identifiers: chr1:g.173878813C>T (hg19) chr1:g.173909675C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909675C>T , CM000663.2:g.173909675C>T GRCh38
NC_000001.10:g.173878813C>T , CM000663.1:g.173878813C>T GRCh37
NC_000001.9:g.172145436C>T NCBI36
NG_012462.1:g.12704G>A , LRG_577:g.12704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1030G>A MANE Select ENSP00000356671.3:p.Glu344Lys
ENST00000367698.3:c.1030G>A ENSP00000356671.3:p.Glu344Lys
ENST00000617423.4:c.560-2182G>A ENSP00000478688.1:n.560-2182G>A
NM_000488.3:c.1030G>A , LRG_577t1:c.1030G>A NP_000479.1:p.Glu344Lys
XM_005245198.2:c.886G>A XP_005245255.1:p.Glu296Lys
NM_001365052.1:c.886G>A NP_001351981.1:p.Glu296Lys
NM_000488.4:c.1030G>A MANE Select NP_000479.1:p.Glu344Lys
NM_001365052.2:c.886G>A NP_001351981.1:p.Glu296Lys
NM_001386302.1:c.1153G>A NP_001373231.1:p.Glu385Lys
NM_001386303.1:c.1111G>A NP_001373232.1:p.Glu371Lys
NM_001386304.1:c.1009G>A NP_001373233.1:p.Glu337Lys
NM_001386305.1:c.973G>A NP_001373234.1:p.Glu325Lys
NM_001386306.1:c.814G>A NP_001373235.1:p.Glu272Lys
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