Linked Data
ClinVar Variation Id:
13890
ClinVar RCV Id:
RCV000014904
dbSNP Id:
rs121913677
COSMIC:
COSM695
PubMed:
PMID:9927037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116783402A>G , CM000669.2:g.116783402A>G | GRCh38 |
| NC_000007.13:g.116423456A>G , CM000669.1:g.116423456A>G | GRCh37 |
| NC_000007.12:g.116210692A>G | NCBI36 |
| NG_008996.1:g.115998A>G , LRG_662:g.115998A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*1336A>G | ENSP00000410980.2:n.*1336A>G | |
| ENST00000318493.11:c.3785A>G | ENSP00000317272.6:p.Lys1262Arg | |
| ENST00000397752.8:c.3731A>G MANE Select | ENSP00000380860.3:p.Lys1244Arg | |
| ENST00000318493.10:c.3785A>G | ENSP00000317272.6:p.Lys1262Arg | |
| ENST00000397752.7:c.3731A>G | ENSP00000380860.3:p.Lys1244Arg | |
| NM_000245.2:c.3731A>G | NP_000236.2:p.Lys1244Arg | |
| NM_001127500.1:c.3785A>G , LRG_662t1:c.3785A>G | NP_001120972.1:p.Lys1262Arg | |
| XM_006715990.2:c.2441A>G | XP_006716053.1:p.Lys814Arg | |
| XM_006715991.2:c.2441A>G | XP_006716054.1:p.Lys814Arg | |
| XM_011516223.1:c.3788A>G | XP_011514525.1:p.Lys1263Arg | |
| NM_000245.3:c.3731A>G | NP_000236.2:p.Lys1244Arg | |
| NM_001127500.2:c.3785A>G | NP_001120972.1:p.Lys1262Arg | |
| NM_001324402.1:c.2441A>G | NP_001311331.1:p.Lys814Arg | |
| XR_001744772.1:n.3862A>G | ||
| NM_001127500.3:c.3785A>G | NP_001120972.1:p.Lys1262Arg | |
| NM_000245.4:c.3731A>G MANE Select | NP_000236.2:p.Lys1244Arg | |
| NM_001324402.2:c.2441A>G | NP_001311331.1:p.Lys814Arg |