Linked Data
ClinVar Variation Id:
161707
ClinVar RCV Id:
RCV000149243
dbSNP Id:
rs193921061
COSMIC:
COSM1179100
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183446598T>G , CM000666.2:g.183446598T>G | GRCh38 |
| NC_000004.11:g.184367751T>G , CM000666.1:g.184367751T>G | GRCh37 |
| NC_000004.10:g.184604745T>G | NCBI36 |
| NG_050671.1:g.6964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504169.2:c.914T>G MANE Select | ENSP00000427108.1:p.Leu305Arg | |
| ENST00000302350.4:c.*502T>G | ENSP00000303788.4:n.*502T>G | |
| ENST00000502924.1:n.207+251T>G | ||
| ENST00000504169.1:c.914T>G | ENSP00000427108.1:p.Leu305Arg | |
| ENST00000506835.1:n.727T>G | ||
| NM_017632.2:c.914T>G | NP_060102.1:p.Leu305Arg | |
| XM_005263118.2:c.149T>G | XP_005263175.1:p.Leu50Arg | |
| NM_001317343.1:c.*502T>G | NP_001304272.1:n.*502T>G | |
| NM_017632.3:c.914T>G | NP_060102.1:p.Leu305Arg | |
| NM_017632.4:c.914T>G MANE Select | NP_060102.1:p.Leu305Arg | |
| NM_001317343.2:c.*502T>G | NP_001304272.1:n.*502T>G |