Linked Data
ClinVar Variation Id:
11683
ClinVar RCV Id:
RCV000012449
dbSNP Id:
rs104894923
PubMed:
PMID:9298820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509314A>T , CM000685.2:g.83509314A>T | GRCh38 |
| NC_000023.10:g.82764322A>T , CM000685.1:g.82764322A>T | GRCh37 |
| NC_000023.9:g.82650978A>T | NCBI36 |
| NG_009936.2:g.6054A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.990A>T MANE Select | ENSP00000495996.1:p.Arg330Ser | |
| ENST00000373200.4:c.990A>T | ENSP00000362296.2:p.Arg330Ser | |
| NM_000307.4:c.990A>T | NP_000298.3:p.Arg330Ser | |
| NM_000307.5:c.990A>T MANE Select | NP_000298.3:p.Arg330Ser |