Linked Data
ClinVar Variation Id:
45277
ClinVar RCV Id:
RCV000038433
dbSNP Id:
rs397517126
COSMIC:
COSM13424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191746T>G , CM000669.2:g.55191746T>G | GRCh38 |
| NC_000007.13:g.55259439T>G , CM000669.1:g.55259439T>G | GRCh37 |
| NC_000007.12:g.55226933T>G | NCBI36 |
| NG_007726.3:g.177715T>G , LRG_304:g.177715T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2338T>G | ENSP00000413354.2:p.Leu780Val | |
| ENST00000700145.1:c.846T>G | ||
| ENST00000275493.7:c.2497T>G MANE Select | ENSP00000275493.2:p.Leu833Val | |
| ENST00000275493.6:c.2497T>G | ENSP00000275493.2:p.Leu833Val | |
| ENST00000442591.5:c.*28+18818T>G | ENSP00000410031.1:n.*28+18818T>G | |
| ENST00000454757.6:c.2362T>G | ENSP00000395243.3:p.Leu788Val | |
| ENST00000455089.5:c.2362T>G | ENSP00000415559.1:p.Leu788Val | |
| NM_005228.3:c.2497T>G , LRG_304t1:c.2497T>G | NP_005219.2:p.Leu833Val | |
| NM_001346897.1:c.2362T>G | NP_001333826.1:p.Leu788Val | |
| NM_001346898.1:c.2497T>G | NP_001333827.1:p.Leu833Val | |
| NM_001346899.1:c.2362T>G | NP_001333828.1:p.Leu788Val | |
| NM_001346900.1:c.2338T>G | NP_001333829.1:p.Leu780Val | |
| NM_001346941.1:c.1696T>G | NP_001333870.1:p.Leu566Val | |
| NM_005228.4:c.2497T>G | NP_005219.2:p.Leu833Val | |
| NM_005228.5:c.2497T>G MANE Select | NP_005219.2:p.Leu833Val | |
| NM_001346897.2:c.2362T>G | NP_001333826.1:p.Leu788Val | |
| NM_001346898.2:c.2497T>G | NP_001333827.1:p.Leu833Val | |
| NM_001346900.2:c.2338T>G | NP_001333829.1:p.Leu780Val | |
| NM_001346941.2:c.1696T>G | NP_001333870.1:p.Leu566Val | |
| NM_001346899.2:c.2362T>G | NP_001333828.1:p.Leu788Val |