Linked Data
ClinVar Variation Id:
120188
ClinVar RCV Id:
RCV000106310
dbSNP Id:
rs587777229
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35309930T>G , CM000681.2:g.35309930T>G | GRCh38 |
| NC_000019.9:g.35800833T>G , CM000681.1:g.35800833T>G | GRCh37 |
| NC_000019.8:g.40492673T>G | NCBI36 |
| NG_034078.1:g.22845T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392213.8:c.1288T>G MANE Select | ENSP00000376048.2:p.Cys430Gly | |
| ENST00000361922.8:c.1288T>G | ENSP00000355234.4:p.Cys430Gly | |
| ENST00000392213.7:c.1288T>G | ENSP00000376048.2:p.Cys430Gly | |
| ENST00000537831.2:c.1213T>G | ENSP00000440695.1:p.Cys405Gly | |
| ENST00000593348.1:n.125T>G | ||
| NM_001199216.1:c.1213T>G | NP_001186145.1:p.Cys405Gly | |
| NM_002361.3:c.1288T>G | NP_002352.1:p.Cys430Gly | |
| NM_080600.2:c.1288T>G | NP_542167.1:p.Cys430Gly | |
| NM_002361.4:c.1288T>G MANE Select | NP_002352.1:p.Cys430Gly | |
| NM_001199216.2:c.1213T>G | NP_001186145.1:p.Cys405Gly | |
| NM_080600.3:c.1288T>G | NP_542167.1:p.Cys430Gly |