Linked Data
ClinVar Variation Id:
91916
ClinVar RCV Id:
RCV000122473
dbSNP Id:
rs386352319
COSMIC:
COSM1684720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128911724G>C , CM000673.2:g.128911724G>C | GRCh38 |
| NC_000011.9:g.128781619G>C , CM000673.1:g.128781619G>C | GRCh37 |
| NC_000011.8:g.128286829G>C | NCBI36 |
| NG_023406.2:g.25307G>C , LRG_333:g.25307G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.451G>C MANE Select | ENSP00000433295.1:p.Gly151Arg | |
| ENST00000338350.4:c.451G>C | ENSP00000339960.4:p.Gly151Arg | |
| ENST00000529694.5:c.451G>C | ENSP00000433295.1:p.Gly151Arg | |
| ENST00000533599.1:c.451G>C | ENSP00000434266.1:p.Gly151Arg | |
| NM_000890.3:c.451G>C , LRG_333t1:c.451G>C | NP_000881.3:p.Gly151Arg | |
| XM_011542809.1:c.451G>C | XP_011541111.1:p.Gly151Arg | |
| XM_011542810.1:c.451G>C | XP_011541112.1:p.Gly151Arg | |
| NM_000890.4:c.451G>C | NP_000881.3:p.Gly151Arg | |
| NM_001354169.1:c.451G>C | NP_001341098.1:p.Gly151Arg | |
| XM_011542809.2:c.451G>C | XP_011541111.1:p.Gly151Arg | |
| XM_011542810.3:c.451G>C | XP_011541112.1:p.Gly151Arg | |
| NM_000890.5:c.451G>C MANE Select | NP_000881.3:p.Gly151Arg | |
| NM_001354169.2:c.451G>C | NP_001341098.1:p.Gly151Arg |