Canonical Allele Identifier: CA275244
Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197145
ClinVar RCV Id: RCV000178103 RCV000255754 RCV000492500 RCV003398894
dbSNP Id: rs121912441
gnomAD v2: 21-33039672-T-C
gnomAD v3: 21-31667359-T-C
gnomAD v4: 21-31667359-T-C
MyVariant Identifiers: chr21:g.33039672T>C (hg19) chr21:g.31667359T>C (hg38)
PubMed: PMID:7673954 PMID:7997024 PMID:8069312 PMID:8446170 PMID:8528216 PMID:8572658 PMID:10400992 PMID:10732812 PMID:12165567 PMID:12358759 PMID:15056757 PMID:16510725 PMID:17092942 PMID:17394531 PMID:18301754 PMID:19259395 PMID:19483195 PMID:23773010 PMID:23891399 PMID:28089114
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667359T>C , CM000683.2:g.31667359T>C GRCh38
NC_000021.8:g.33039672T>C , CM000683.1:g.33039672T>C GRCh37
NC_000021.7:g.31961543T>C NCBI36
NG_008689.1:g.12738T>C , LRG_652:g.12738T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.341T>C MANE Select ENSP00000270142.7:p.Ile114Thr
ENST00000270142.10:c.341T>C ENSP00000270142.6:p.Ile114Thr
ENST00000389995.4:c.284T>C ENSP00000374645.4:p.Ile95Thr
ENST00000470944.1:n.1269T>C
NM_000454.4:c.341T>C , LRG_652t1:c.341T>C NP_000445.1:p.Ile114Thr
NM_000454.5:c.341T>C MANE Select NP_000445.1:p.Ile114Thr
Search 100 bp 5'
Search 100 bp 3'