Linked Data
ClinVar Variation Id:
10695
ClinVar RCV Id:
RCV000011441
dbSNP Id:
rs137852220
COSMIC:
COSM4823150
PubMed:
PMID:8946107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949839C>A , CM000685.2:g.43949839C>A | GRCh38 |
| NC_000023.10:g.43809085C>A , CM000685.1:g.43809085C>A | GRCh37 |
| NC_000023.9:g.43694029C>A | NCBI36 |
| NG_009832.1:g.28837G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.362G>T (NDP) MANE Select | ENSP00000495972.1:p.Arg121Leu | |
| ENST00000647044.1:c.362G>T (NDP) | ENSP00000495811.1:p.Arg121Leu | |
| ENST00000378062.5:c.362G>T (NDP) | ENSP00000367301.5:p.Arg121Leu | |
| ENST00000470584.1:n.406G>T (NDP) | ||
| NM_000266.3:c.362G>T (NDP) | NP_000257.1:p.Arg121Leu | |
| NR_046631.1:n.108C>A (NDP-AS1) | ||
| NM_000266.4:c.362G>T (NDP) MANE Select | NP_000257.1:p.Arg121Leu |