Linked Data
ClinVar Variation Id:
517410
ClinVar RCV Id:
RCV000601487
dbSNP Id:
rs762710510
gnomAD v4:
5-146340263-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340263C>G , CM000667.2:g.146340263C>G | GRCh38 |
| NC_000005.9:g.145719826C>G , CM000667.1:g.145719826C>G | GRCh37 |
| NC_000005.8:g.145700019C>G | NCBI36 |
| NG_011885.1:g.6240C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.836C>G MANE Select | ENSP00000495718.1:p.Thr279Arg | |
| ENST00000230732.4:c.836C>G | ENSP00000230732.4:p.Thr279Arg | |
| NM_002700.2:c.836C>G | NP_002691.1:p.Thr279Arg | |
| NM_002700.3:c.836C>G MANE Select | NP_002691.1:p.Thr279Arg |