Linked Data
ClinVar Variation Id:
1686353
ClinVar RCV Id:
RCV002246866
dbSNP Id:
rs995111248
gnomAD v4:
14-77225454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77225454A>G , CM000676.2:g.77225454A>G | GRCh38 |
| NC_000014.8:g.77691797A>G , CM000676.1:g.77691797A>G | GRCh37 |
| NC_000014.7:g.76761550A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298351.5:c.343A>G MANE Select | ENSP00000298351.4:p.Thr115Ala | |
| ENST00000298351.4:c.343A>G | ENSP00000298351.4:p.Thr115Ala | |
| ENST00000554766.5:c.343A>G | ENSP00000451842.1:p.Thr115Ala | |
| ENST00000557752.1:c.*318A>G | ENSP00000456507.1:n.*318A>G | |
| NM_020431.3:c.343A>G | NP_065164.2:p.Thr115Ala | |
| NM_020431.4:c.343A>G MANE Select | NP_065164.2:p.Thr115Ala |