Linked Data
ClinVar Variation Id:
375932
dbSNP Id:
rs121913514
COSMIC:
COSM1322
PubMed:
PMID:15685537
PMID:17699867
PMID:21642685
PMID:22932406
PMID:23149070
PMID:25157968
PMID:28135719
CIViC:
CA16602412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54733174T>G , CM000666.2:g.54733174T>G | GRCh38 |
| NC_000004.11:g.55599340T>G , CM000666.1:g.55599340T>G | GRCh37 |
| NC_000004.10:g.55294097T>G | NCBI36 |
| NG_007456.1:g.80180T>G , LRG_307:g.80180T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.2454T>G | ENSP00000390987.3:p.Asn818Lys | |
| ENST00000685269.1:n.2544T>G | ||
| ENST00000686011.1:c.2451T>G | ENSP00000509704.1:p.Asn817Lys | |
| ENST00000687109.1:c.2469T>G | ENSP00000509371.1:p.Asn823Lys | |
| ENST00000687208.1:n.2878T>G | ||
| ENST00000687246.1:c.2349+1176T>G | ENSP00000509114.1:n.2349+1176T>G | |
| ENST00000687265.1:n.2624T>G | ||
| ENST00000687295.1:c.2454T>G | ENSP00000509450.1:p.Asn818Lys | |
| ENST00000688060.1:n.263T>G | ||
| ENST00000688704.1:n.1478T>G | ||
| ENST00000689832.1:c.2466T>G | ENSP00000509084.1:p.Asn822Lys | |
| ENST00000689994.1:c.1956T>G | ENSP00000509156.1:p.Asn652Lys | |
| ENST00000690543.1:c.2457T>G | ENSP00000508831.1:p.Asn819Lys | |
| ENST00000690917.1:n.2684T>G | ||
| ENST00000691361.1:n.1376T>G | ||
| ENST00000692783.1:c.2463T>G | ENSP00000508733.1:p.Asn821Lys | |
| ENST00000692991.1:n.2563T>G | ||
| ENST00000288135.6:c.2466T>G MANE Select | ENSP00000288135.6:p.Asn822Lys | |
| ENST00000288135.5:c.2466T>G | ENSP00000288135.5:p.Asn822Lys | |
| ENST00000412167.6:c.2454T>G | ENSP00000390987.2:p.Asn818Lys | |
| ENST00000512959.1:n.519T>G | ||
| NM_000222.2:c.2466T>G , LRG_307t1:c.2466T>G | NP_000213.1:p.Asn822Lys | |
| NM_001093772.1:c.2454T>G | NP_001087241.1:p.Asn818Lys | |
| XM_005265740.1:c.2469T>G | XP_005265797.1:p.Asn823Lys | |
| XM_005265741.1:c.2466T>G | XP_005265798.1:p.Asn822Lys | |
| XM_005265742.1:c.2457T>G | XP_005265799.1:p.Asn819Lys | |
| XM_005265742.3:c.2457T>G | XP_005265799.1:p.Asn819Lys | |
| XM_017008178.1:c.2463T>G | XP_016863667.1:p.Asn821Lys | |
| XM_017008179.1:c.2454T>G | XP_016863668.1:p.Asn818Lys | |
| XM_017008180.1:c.2451T>G | XP_016863669.1:p.Asn817Lys | |
| NM_000222.3:c.2466T>G MANE Select | NP_000213.1:p.Asn822Lys | |
| NM_001093772.2:c.2454T>G | NP_001087241.1:p.Asn818Lys | |
| NM_001385284.1:c.2469T>G | NP_001372213.1:p.Asn823Lys | |
| NM_001385285.1:c.2463T>G | NP_001372214.1:p.Asn821Lys | |
| NM_001385286.1:c.2451T>G | NP_001372215.1:p.Asn817Lys | |
| NM_001385288.1:c.2457T>G | NP_001372217.1:p.Asn819Lys | |
| NM_001385290.1:c.2466T>G | NP_001372219.1:p.Asn822Lys | |
| NM_001385292.1:c.2454T>G | NP_001372221.1:p.Asn818Lys |