Linked Data
ClinVar Variation Id:
10572
dbSNP Id:
rs137852227
COSMIC:
COSM1115958
ERepo:
CA340993/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139537144C>T , CM000685.2:g.139537144C>T | GRCh38 |
| NC_000023.10:g.138619303C>T , CM000685.1:g.138619303C>T | GRCh37 |
| NC_000023.9:g.138446969C>T | NCBI36 |
| NG_007994.1:g.11409C>T , LRG_556:g.11409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.223C>T MANE Select | ENSP00000218099.2:p.Arg75Ter | |
| ENST00000218099.6:c.223C>T | ENSP00000218099.2:p.Arg75Ter | |
| ENST00000394090.2:c.223C>T | ENSP00000377650.2:p.Arg75Ter | |
| ENST00000479617.2:n.230C>T | ||
| NM_000133.3:c.223C>T , LRG_556t1:c.223C>T | NP_000124.1:p.Arg75Ter | |
| NM_001313913.1:c.223C>T | NP_001300842.1:p.Arg75Ter | |
| XM_005262397.3:c.223C>T | XP_005262454.1:p.Arg75Ter | |
| XM_005262397.4:c.223C>T | XP_005262454.1:p.Arg75Ter | |
| NM_000133.4:c.223C>T MANE Select | NP_000124.1:p.Arg75Ter | |
| NM_001313913.2:c.223C>T | NP_001300842.1:p.Arg75Ter |