Linked Data
ClinVar Variation Id:
11679
ClinVar RCV Id:
RCV000012445
dbSNP Id:
rs104894921
PubMed:
PMID:7839145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509274T>G , CM000685.2:g.83509274T>G | GRCh38 |
| NC_000023.10:g.82764282T>G , CM000685.1:g.82764282T>G | GRCh37 |
| NC_000023.9:g.82650938T>G | NCBI36 |
| NG_009936.2:g.6014T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.950T>G MANE Select | ENSP00000495996.1:p.Leu317Trp | |
| ENST00000373200.4:c.950T>G | ENSP00000362296.2:p.Leu317Trp | |
| NM_000307.4:c.950T>G | NP_000298.3:p.Leu317Trp | |
| NM_000307.5:c.950T>G MANE Select | NP_000298.3:p.Leu317Trp |