Linked Data
ClinVar Variation Id:
13543
dbSNP Id:
rs121908585
COSMIC:
COSM736
PubMed:
PMID:12522257
PMID:12949711
PMID:14645423
PMID:15146165
PMID:15685537
PMID:15928335
PMID:16638875
PMID:16954519
PMID:17087943
PMID:18794084
PMID:22718859
PMID:22745105
PMID:25157968
PMID:26130666
CIViC:
CA123194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54285926A>T , CM000666.2:g.54285926A>T | GRCh38 |
| NC_000004.11:g.55152093A>T , CM000666.1:g.55152093A>T | GRCh37 |
| NC_000004.10:g.54846850A>T | NCBI36 |
| NG_009250.1:g.61830A>T , LRG_309:g.61830A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257290.10:c.2525A>T MANE Select | ENSP00000257290.5:p.Asp842Val | |
| ENST00000257290.9:c.2525A>T | ENSP00000257290.5:p.Asp842Val | |
| ENST00000507166.5:c.1805A>T | ENSP00000423325.1:p.Asp602Val | |
| NM_006206.4:c.2525A>T , LRG_309t1:c.2525A>T | NP_006197.1:p.Asp842Val | |
| XM_005265743.1:c.2525A>T | XP_005265800.1:p.Asp842Val | |
| XM_006714039.2:c.2600A>T | XP_006714102.1:p.Asp867Val | |
| XM_011534385.1:c.2525A>T | XP_011532687.1:p.Asp842Val | |
| XM_011534386.1:c.2525A>T | XP_011532688.1:p.Asp842Val | |
| NM_001347828.1:c.2600A>T | NP_001334757.1:p.Asp867Val | |
| NM_001347829.1:c.2525A>T | NP_001334758.1:p.Asp842Val | |
| NM_001347830.1:c.2564A>T | NP_001334759.1:p.Asp855Val | |
| NM_006206.5:c.2525A>T | NP_006197.1:p.Asp842Val | |
| NM_006206.6:c.2525A>T MANE Select | NP_006197.1:p.Asp842Val | |
| NM_001347828.2:c.2600A>T | NP_001334757.1:p.Asp867Val | |
| NM_001347829.2:c.2525A>T | NP_001334758.1:p.Asp842Val | |
| NM_001347830.2:c.2564A>T | NP_001334759.1:p.Asp855Val |