Linked Data
ClinVar Variation Id:
10640
dbSNP Id:
rs137852272
COSMIC:
COSM3558414
PubMed:
PMID:2370049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139548455C>T , CM000685.2:g.139548455C>T | GRCh38 |
| NC_000023.10:g.138630614C>T , CM000685.1:g.138630614C>T | GRCh37 |
| NC_000023.9:g.138458280C>T | NCBI36 |
| NG_007994.1:g.22720C>T , LRG_556:g.22720C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.484C>T MANE Select | ENSP00000218099.2:p.Arg162Ter | |
| ENST00000643157.1:n.1151C>T | ||
| ENST00000218099.6:c.484C>T | ENSP00000218099.2:p.Arg162Ter | |
| ENST00000394090.2:c.370C>T | ENSP00000377650.2:p.Arg124Ter | |
| NM_000133.3:c.484C>T , LRG_556t1:c.484C>T | NP_000124.1:p.Arg162Ter | |
| NM_001313913.1:c.370C>T | NP_001300842.1:p.Arg124Ter | |
| XM_005262397.3:c.392-2607C>T | XP_005262454.1:n.392-2607C>T | |
| XM_005262397.4:c.392-2607C>T | XP_005262454.1:n.392-2607C>T | |
| NM_000133.4:c.484C>T MANE Select | NP_000124.1:p.Arg162Ter | |
| NM_001313913.2:c.370C>T | NP_001300842.1:p.Arg124Ter |