Linked Data
ClinVar Variation Id:
10698
ClinVar RCV Id:
RCV000011444
dbSNP Id:
rs104894882
PubMed:
PMID:8990009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949983G>T , CM000685.2:g.43949983G>T | GRCh38 |
| NC_000023.10:g.43809229G>T , CM000685.1:g.43809229G>T | GRCh37 |
| NC_000023.9:g.43694173G>T | NCBI36 |
| NG_009832.1:g.28693C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.218C>A (NDP) MANE Select | ENSP00000495972.1:p.Ser73Ter | |
| ENST00000647044.1:c.218C>A (NDP) | ENSP00000495811.1:p.Ser73Ter | |
| ENST00000378062.5:c.218C>A (NDP) | ENSP00000367301.5:p.Ser73Ter | |
| ENST00000470584.1:n.262C>A (NDP) | ||
| NM_000266.3:c.218C>A (NDP) | NP_000257.1:p.Ser73Ter | |
| NR_046631.1:n.252G>T (NDP-AS1) | ||
| NM_000266.4:c.218C>A (NDP) MANE Select | NP_000257.1:p.Ser73Ter |