Linked Data
ClinVar Variation Id:
376183
ClinVar RCV Id:
RCV000443097
dbSNP Id:
rs1057519813
PubMed:
PMID:24132921
CIViC:
CA16602638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54285923G>A , CM000666.2:g.54285923G>A | GRCh38 |
| NC_000004.11:g.55152090G>A , CM000666.1:g.55152090G>A | GRCh37 |
| NC_000004.10:g.54846847G>A | NCBI36 |
| NG_009250.1:g.61827G>A , LRG_309:g.61827G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257290.10:c.2522G>A MANE Select | ENSP00000257290.5:p.Arg841Lys | |
| ENST00000257290.9:c.2522G>A | ENSP00000257290.5:p.Arg841Lys | |
| ENST00000507166.5:c.1802G>A | ENSP00000423325.1:p.Arg601Lys | |
| NM_006206.4:c.2522G>A , LRG_309t1:c.2522G>A | NP_006197.1:p.Arg841Lys | |
| XM_005265743.1:c.2522G>A | XP_005265800.1:p.Arg841Lys | |
| XM_006714039.2:c.2597G>A | XP_006714102.1:p.Arg866Lys | |
| XM_011534385.1:c.2522G>A | XP_011532687.1:p.Arg841Lys | |
| XM_011534386.1:c.2522G>A | XP_011532688.1:p.Arg841Lys | |
| NM_001347828.1:c.2597G>A | NP_001334757.1:p.Arg866Lys | |
| NM_001347829.1:c.2522G>A | NP_001334758.1:p.Arg841Lys | |
| NM_001347830.1:c.2561G>A | NP_001334759.1:p.Arg854Lys | |
| NM_006206.5:c.2522G>A | NP_006197.1:p.Arg841Lys | |
| NM_006206.6:c.2522G>A MANE Select | NP_006197.1:p.Arg841Lys | |
| NM_001347828.2:c.2597G>A | NP_001334757.1:p.Arg866Lys | |
| NM_001347829.2:c.2522G>A | NP_001334758.1:p.Arg841Lys | |
| NM_001347830.2:c.2561G>A | NP_001334759.1:p.Arg854Lys |