Linked Data
ClinVar Variation Id:
208822
ClinVar RCV Id:
RCV000206923
dbSNP Id:
rs864621996
COSMIC:
COSM13426
PubMed:
PMID:15623594
CIViC:
CA350916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191761C>G , CM000669.2:g.55191761C>G | GRCh38 |
| NC_000007.13:g.55259454C>G , CM000669.1:g.55259454C>G | GRCh37 |
| NC_000007.12:g.55226948C>G | NCBI36 |
| NG_007726.3:g.177730C>G , LRG_304:g.177730C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2353C>G | ENSP00000413354.2:p.Leu785Val | |
| ENST00000700145.1:c.861C>G | ||
| ENST00000275493.7:c.2512C>G MANE Select | ENSP00000275493.2:p.Leu838Val | |
| ENST00000275493.6:c.2512C>G | ENSP00000275493.2:p.Leu838Val | |
| ENST00000442591.5:c.*28+18833C>G | ENSP00000410031.1:n.*28+18833C>G | |
| ENST00000454757.6:c.2377C>G | ENSP00000395243.3:p.Leu793Val | |
| ENST00000455089.5:c.2377C>G | ENSP00000415559.1:p.Leu793Val | |
| NM_005228.3:c.2512C>G , LRG_304t1:c.2512C>G | NP_005219.2:p.Leu838Val | |
| NM_001346897.1:c.2377C>G | NP_001333826.1:p.Leu793Val | |
| NM_001346898.1:c.2512C>G | NP_001333827.1:p.Leu838Val | |
| NM_001346899.1:c.2377C>G | NP_001333828.1:p.Leu793Val | |
| NM_001346900.1:c.2353C>G | NP_001333829.1:p.Leu785Val | |
| NM_001346941.1:c.1711C>G | NP_001333870.1:p.Leu571Val | |
| NM_005228.4:c.2512C>G | NP_005219.2:p.Leu838Val | |
| NM_005228.5:c.2512C>G MANE Select | NP_005219.2:p.Leu838Val | |
| NM_001346897.2:c.2377C>G | NP_001333826.1:p.Leu793Val | |
| NM_001346898.2:c.2512C>G | NP_001333827.1:p.Leu838Val | |
| NM_001346900.2:c.2353C>G | NP_001333829.1:p.Leu785Val | |
| NM_001346941.2:c.1711C>G | NP_001333870.1:p.Leu571Val | |
| NM_001346899.2:c.2377C>G | NP_001333828.1:p.Leu793Val |