Linked Data
ClinVar Variation Id:
16609
ClinVar RCV Id:
RCV000018083
RCV000018084
RCV000150629
RCV000211323
RCV000418019
RCV000435684
RCV000987885
RCV001030016
RCV001030017
RCV002464068
dbSNP Id:
rs121434568
COSMIC:
COSM6224
PubMed:
PMID:15118073
PMID:15118125
PMID:15329413
PMID:15897572
PMID:15901872
PMID:16043828
PMID:16115929
PMID:16203769
PMID:16204011
PMID:16204070
PMID:16865253
PMID:16956694
PMID:17047654
PMID:17106442
PMID:17192902
PMID:17285735
PMID:17317677
PMID:17387341
PMID:17429313
PMID:17473659
PMID:18303429
PMID:18349398
PMID:19096302
PMID:19455431
PMID:19692680
PMID:19692684
PMID:19922469
PMID:20022809
PMID:20038723
PMID:20479403
PMID:20573926
PMID:21670455
PMID:21783417
PMID:21900837
PMID:21969500
PMID:22215752
PMID:22370314
PMID:22452895
PMID:22740981
PMID:22753918
PMID:22760226
PMID:22982650
PMID:22992668
PMID:23102728
PMID:23816960
PMID:23948351
PMID:25157968
PMID:26490356
PMID:26619011
CIViC:
CA126713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191822T>G , CM000669.2:g.55191822T>G | GRCh38 |
| NC_000007.13:g.55259515T>G , CM000669.1:g.55259515T>G | GRCh37 |
| NC_000007.12:g.55227009T>G | NCBI36 |
| NG_007726.3:g.177791T>G , LRG_304:g.177791T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275493.7:c.2573T>G MANE Select | ENSP00000275493.2:p.Leu858Arg | |
| ENST00000275493.6:c.2573T>G | ENSP00000275493.2:p.Leu858Arg | |
| ENST00000442591.5:c.*28+18894T>G | ENSP00000410031.1:n.*28+18894T>G | |
| ENST00000454757.6:c.2438T>G | ENSP00000395243.3:p.Leu813Arg | |
| ENST00000455089.5:c.2438T>G | ENSP00000415559.1:p.Leu813Arg | |
| NM_005228.3:c.2573T>G , LRG_304t1:c.2573T>G | NP_005219.2:p.Leu858Arg | |
| NM_001346897.1:c.2438T>G | NP_001333826.1:p.Leu813Arg | |
| NM_001346898.1:c.2573T>G | NP_001333827.1:p.Leu858Arg | |
| NM_001346899.1:c.2438T>G | NP_001333828.1:p.Leu813Arg | |
| NM_001346900.1:c.2414T>G | NP_001333829.1:p.Leu805Arg | |
| NM_001346941.1:c.1772T>G | NP_001333870.1:p.Leu591Arg | |
| NM_005228.4:c.2573T>G | NP_005219.2:p.Leu858Arg | |
| NM_005228.5:c.2573T>G MANE Select | NP_005219.2:p.Leu858Arg | |
| NM_001346897.2:c.2438T>G | NP_001333826.1:p.Leu813Arg | |
| NM_001346898.2:c.2573T>G | NP_001333827.1:p.Leu858Arg | |
| NM_001346900.2:c.2414T>G | NP_001333829.1:p.Leu805Arg | |
| NM_001346941.2:c.1772T>G | NP_001333870.1:p.Leu591Arg | |
| NM_001346899.2:c.2438T>G | NP_001333828.1:p.Leu813Arg |