Linked Data
ClinVar Variation Id:
10689
ClinVar RCV Id:
RCV000011435
dbSNP Id:
rs104894879
PubMed:
PMID:8069314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958608A>C , CM000685.2:g.43958608A>C | GRCh38 |
| NC_000023.10:g.43817854A>C , CM000685.1:g.43817854A>C | GRCh37 |
| NC_000023.9:g.43702798A>C | NCBI36 |
| NG_009832.1:g.20068T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.38T>G (NDP) MANE Select | ENSP00000495972.1:p.Leu13Arg | |
| ENST00000647044.1:c.38T>G (NDP) | ENSP00000495811.1:p.Leu13Arg | |
| ENST00000378062.5:c.38T>G (NDP) | ENSP00000367301.5:p.Leu13Arg | |
| ENST00000470584.1:n.218+110T>G (NDP) | ||
| NM_000266.3:c.38T>G (NDP) | NP_000257.1:p.Leu13Arg | |
| NR_046631.1:n.467-2177A>C (NDP-AS1) | ||
| NM_000266.4:c.38T>G (NDP) MANE Select | NP_000257.1:p.Leu13Arg |