Linked Data
ClinVar Variation Id:
253132
dbSNP Id:
rs879255643
gnomAD v4:
11-62626633-G-A
COSMIC:
COSM291569
PubMed:
PMID:27259053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62626633G>A , CM000673.2:g.62626633G>A | GRCh38 |
| NC_000011.9:g.62394105G>A , CM000673.1:g.62394105G>A | GRCh37 |
| NC_000011.8:g.62150681G>A | NCBI36 |
| NG_031863.1:g.543C>T | |
| NG_053018.1:g.25094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356638.8:c.2449C>T MANE Select | ENSP00000349053.3:p.Arg817Trp | |
| ENST00000648273.1:c.2158C>T | ENSP00000497655.1:p.Arg720Trp | |
| ENST00000346178.8:c.2515C>T | ENSP00000340466.4:p.Arg839Trp | |
| ENST00000356638.7:c.2449C>T | ENSP00000349053.3:p.Arg817Trp | |
| ENST00000528503.1:n.138C>T | ||
| ENST00000531563.1:n.304C>T | ||
| ENST00000532402.5:c.*2181C>T | ENSP00000432181.1:n.*2181C>T | |
| ENST00000534779.5:c.2173C>T | ENSP00000435306.1:p.Arg725Trp | |
| ENST00000540933.5:c.2158C>T | ENSP00000442962.1:p.Arg720Trp | |
| NM_001278192.1:c.2173C>T | NP_001265121.1:p.Arg725Trp | |
| NM_001278193.1:c.2107C>T | NP_001265122.1:p.Arg703Trp | |
| NM_001278194.1:c.2158C>T | NP_001265123.1:p.Arg720Trp | |
| NM_198334.2:c.2449C>T | NP_938148.1:p.Arg817Trp | |
| NM_198335.3:c.2515C>T | NP_938149.2:p.Arg839Trp | |
| NM_001329222.1:c.2158C>T | NP_001316151.1:p.Arg720Trp | |
| NM_001329223.1:c.2158C>T | NP_001316152.1:p.Arg720Trp | |
| NM_001329224.1:c.1726C>T | NP_001316153.1:p.Arg576Trp | |
| NM_001329225.1:c.1726C>T | NP_001316154.1:p.Arg576Trp | |
| XM_017017412.1:c.2158C>T | XP_016872901.1:p.Arg720Trp | |
| NM_198334.3:c.2449C>T MANE Select | NP_938148.1:p.Arg817Trp | |
| NM_001278192.2:c.2173C>T | NP_001265121.1:p.Arg725Trp | |
| NM_001278193.2:c.2107C>T | NP_001265122.1:p.Arg703Trp | |
| NM_001329223.2:c.2158C>T | NP_001316152.1:p.Arg720Trp | |
| NM_001329225.2:c.1726C>T | NP_001316154.1:p.Arg576Trp | |
| NM_198335.4:c.2515C>T | NP_938149.2:p.Arg839Trp | |
| NM_001278194.2:c.2158C>T | NP_001265123.1:p.Arg720Trp | |
| NM_001329222.2:c.2158C>T | NP_001316151.1:p.Arg720Trp | |
| NM_001329224.2:c.1726C>T | NP_001316153.1:p.Arg576Trp |