Canonical Allele Identifier: CA10608814
Gene: SERPINC1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.173909651T>C
GRCh37 chr1:g.173878789T>C
Revel Score:
ENST00000367698 (MANE Select) 0.238
gnomAD v3:
1:173909651 T / C
gnomAD v4:
chr1-173909651-T-C
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000375162
ClinVar Variation:
293837
dbSNP:
886045594
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909651T>C , CM000663.2:g.173909651T>C GRCh38
NC_000001.10:g.173878789T>C , CM000663.1:g.173878789T>C GRCh37
NC_000001.9:g.172145412T>C NCBI36
NG_012462.1:g.12728A>G , LRG_577:g.12728A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1054A>G MANE Select ENSP00000356671.3:p.Met352Val
ENST00000367698.3:c.1054A>G ENSP00000356671.3:p.Met352Val
ENST00000617423.4:c.560-2158A>G ENSP00000478688.1:n.560-2158A>G
NM_000488.3:c.1054A>G , LRG_577t1:c.1054A>G NP_000479.1:p.Met352Val
XM_005245198.2:c.910A>G XP_005245255.1:p.Met304Val
NM_001365052.1:c.910A>G NP_001351981.1:p.Met304Val
NM_000488.4:c.1054A>G MANE Select NP_000479.1:p.Met352Val
NM_001365052.2:c.910A>G NP_001351981.1:p.Met304Val
NM_001386302.1:c.1177A>G NP_001373231.1:p.Met393Val
NM_001386303.1:c.1135A>G NP_001373232.1:p.Met379Val
NM_001386304.1:c.1033A>G NP_001373233.1:p.Met345Val
NM_001386305.1:c.997A>G NP_001373234.1:p.Met333Val
NM_001386306.1:c.838A>G NP_001373235.1:p.Met280Val
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