Linked Data
ClinVar Variation Id:
12211
dbSNP Id:
rs121964886
gnomAD v4:
20-3083012-C-A
PubMed:
PMID:8626836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083012C>A , CM000682.2:g.3083012C>A | GRCh38 |
| NC_000020.10:g.3063658C>A , CM000682.1:g.3063658C>A | GRCh37 |
| NC_000020.9:g.3011658C>A | NCBI36 |
| NG_008663.1:g.6713G>T , LRG_715:g.6713G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.287G>T MANE Select | ENSP00000369647.3:p.Gly96Val | |
| NM_000490.4:c.287G>T , LRG_715t1:c.287G>T | NP_000481.2:p.Gly96Val | |
| XM_011529267.1:c.287G>T | XP_011527569.1:p.Gly96Val | |
| XM_011529267.2:c.287G>T | XP_011527569.1:p.Gly96Val | |
| NM_000490.5:c.287G>T MANE Select | NP_000481.2:p.Gly96Val |