Canonical Allele Identifier: CA2876237
Gene: SOD3 HGNC NCBI
COSMIC:
COSM3749869 (not active)
MyVariant.info:
GRCh38 chr4:g.24799732C>T
GRCh37 chr4:g.24801354C>T
gnomAD v2:
4:24801354 C / T
gnomAD v3:
4:24799732 C / T
gnomAD v4:
chr4-24799732-C-T
Joint Max Group AF 0.40245865 (EAS)
Genomes Max Group AF 0.35024941 (EAS)
Exomes Max Group AF 0.40813954 (EAS)
ClinVar RCV:
RCV003984590
ClinVar Variation:
3060611
dbSNP:
8192291
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24799732C>T , CM000666.2:g.24799732C>T GRCh38
NC_000004.11:g.24801354C>T , CM000666.1:g.24801354C>T GRCh37
NC_000004.10:g.24410452C>T NCBI36
NG_012213.1:g.9270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382120.4:c.211C>T MANE Select ENSP00000371554.3:p.Leu71=
ENST00000382120.3:c.211C>T ENSP00000371554.3:p.Leu71=
NM_003102.2:c.211C>T NP_003093.2:p.Leu71=
XR_427488.1:n.401C>T
NM_003102.3:c.211C>T NP_003093.2:p.Leu71=
NM_003102.4:c.211C>T MANE Select NP_003093.2:p.Leu71=
Search 100 bp 5'
Search 100 bp 3'