Linked Data
ClinVar Variation Id:
10599
ClinVar RCV Id:
RCV000011345
dbSNP Id:
rs137852246
PubMed:
PMID:2773937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139560821T>G , CM000685.2:g.139560821T>G | GRCh38 |
| NC_000023.10:g.138642980T>G , CM000685.1:g.138642980T>G | GRCh37 |
| NC_000023.9:g.138470646T>G | NCBI36 |
| NG_007994.1:g.35086T>G , LRG_556:g.35086T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.804T>G MANE Select | ENSP00000218099.2:p.Cys268Trp | |
| ENST00000643157.1:n.1471T>G | ||
| ENST00000218099.6:c.804T>G | ENSP00000218099.2:p.Cys268Trp | |
| ENST00000394090.2:c.690T>G | ENSP00000377650.2:p.Cys230Trp | |
| NM_000133.3:c.804T>G , LRG_556t1:c.804T>G | NP_000124.1:p.Cys268Trp | |
| NM_001313913.1:c.690T>G | NP_001300842.1:p.Cys230Trp | |
| XM_005262397.3:c.675T>G | XP_005262454.1:p.Cys225Trp | |
| XM_005262397.4:c.675T>G | XP_005262454.1:p.Cys225Trp | |
| NM_000133.4:c.804T>G MANE Select | NP_000124.1:p.Cys268Trp | |
| NM_001313913.2:c.690T>G | NP_001300842.1:p.Cys230Trp |