Linked Data
ClinVar Variation Id:
91917
ClinVar RCV Id:
RCV000122474
dbSNP Id:
rs386352318
COSMIC:
COSM1684718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128911776T>G , CM000673.2:g.128911776T>G | GRCh38 |
| NC_000011.9:g.128781671T>G , CM000673.1:g.128781671T>G | GRCh37 |
| NC_000011.8:g.128286881T>G | NCBI36 |
| NG_023406.2:g.25359T>G , LRG_333:g.25359T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.503T>G MANE Select | ENSP00000433295.1:p.Leu168Arg | |
| ENST00000338350.4:c.503T>G | ENSP00000339960.4:p.Leu168Arg | |
| ENST00000529694.5:c.503T>G | ENSP00000433295.1:p.Leu168Arg | |
| ENST00000533599.1:c.503T>G | ENSP00000434266.1:p.Leu168Arg | |
| NM_000890.3:c.503T>G , LRG_333t1:c.503T>G | NP_000881.3:p.Leu168Arg | |
| XM_011542809.1:c.503T>G | XP_011541111.1:p.Leu168Arg | |
| XM_011542810.1:c.503T>G | XP_011541112.1:p.Leu168Arg | |
| NM_000890.4:c.503T>G | NP_000881.3:p.Leu168Arg | |
| NM_001354169.1:c.503T>G | NP_001341098.1:p.Leu168Arg | |
| XM_011542809.2:c.503T>G | XP_011541111.1:p.Leu168Arg | |
| XM_011542810.3:c.503T>G | XP_011541112.1:p.Leu168Arg | |
| NM_000890.5:c.503T>G MANE Select | NP_000881.3:p.Leu168Arg | |
| NM_001354169.2:c.503T>G | NP_001341098.1:p.Leu168Arg |