Linked Data
ClinVar Variation Id:
208320
ClinVar RCV Id:
RCV000206948
dbSNP Id:
rs373766942
PubMed:
PMID:19074801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47351192C>G , CM000672.2:g.47351192C>G | GRCh38 |
| NC_000010.10:g.48388170G>C , CM000672.1:g.48388170G>C | GRCh37 |
| NC_000010.9:g.48008176G>C | NCBI36 |
| NG_029718.1:g.7822C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2708C>G MANE Select | ENSP00000463151.1:p.Thr903Arg | |
| ENST00000584701.1:c.2708C>G | ENSP00000463151.1:p.Thr903Arg | |
| NM_002900.2:c.2708C>G | NP_002891.1:p.Thr903Arg | |
| NM_002900.3:c.2708C>G MANE Select | NP_002891.1:p.Thr903Arg |