Linked Data
ClinVar Variation Id:
10693
ClinVar RCV Id:
RCV000011439
dbSNP Id:
rs104894875
PubMed:
PMID:9382152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949888C>T , CM000685.2:g.43949888C>T | GRCh38 |
| NC_000023.10:g.43809134C>T , CM000685.1:g.43809134C>T | GRCh37 |
| NC_000023.9:g.43694078C>T | NCBI36 |
| NG_009832.1:g.28788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.313G>A (NDP) MANE Select | ENSP00000495972.1:p.Ala105Thr | |
| ENST00000647044.1:c.313G>A (NDP) | ENSP00000495811.1:p.Ala105Thr | |
| ENST00000378062.5:c.313G>A (NDP) | ENSP00000367301.5:p.Ala105Thr | |
| ENST00000470584.1:n.357G>A (NDP) | ||
| NM_000266.3:c.313G>A (NDP) | NP_000257.1:p.Ala105Thr | |
| NR_046631.1:n.157C>T (NDP-AS1) | ||
| NM_000266.4:c.313G>A (NDP) MANE Select | NP_000257.1:p.Ala105Thr |