Linked Data
ClinVar Variation Id:
139589
ClinVar RCV Id:
RCV000128530
dbSNP Id:
rs61752128
PubMed:
PMID:14630978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983440A>G , CM000670.2:g.76983440A>G | GRCh38 |
| NC_000008.10:g.77895676A>G , CM000670.1:g.77895676A>G | GRCh37 |
| NC_000008.9:g.78058231A>G | NCBI36 |
| NG_008371.1:g.21849T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.739T>C MANE Select | ENSP00000349543.4:p.Cys247Arg | |
| ENST00000357039.8:c.739T>C | ENSP00000349543.4:p.Cys247Arg | |
| ENST00000520103.5:c.739T>C | ENSP00000428590.1:p.Cys247Arg | |
| ENST00000522527.5:c.739T>C | ENSP00000428638.1:p.Cys247Arg | |
| NM_000318.2:c.739T>C | NP_000309.1:p.Cys247Arg | |
| NM_001079867.1:c.739T>C | NP_001073336.1:p.Cys247Arg | |
| NM_001172086.1:c.739T>C | NP_001165557.1:p.Cys247Arg | |
| NM_001172087.1:c.739T>C | NP_001165558.1:p.Cys247Arg | |
| NM_000318.3:c.739T>C MANE Select | NP_000309.2:p.Cys247Arg | |
| NM_001079867.2:c.739T>C | NP_001073336.2:p.Cys247Arg | |
| NM_001172086.2:c.739T>C | NP_001165557.2:p.Cys247Arg | |
| NM_001172087.2:c.739T>C | NP_001165558.2:p.Cys247Arg |