Linked Data
ClinVar Variation Id:
10690
ClinVar RCV Id:
RCV000011436
dbSNP Id:
rs104894880
gnomAD v4:
X-43950020-G-A
PubMed:
PMID:9143918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43950020G>A , CM000685.2:g.43950020G>A | GRCh38 |
| NC_000023.10:g.43809266G>A , CM000685.1:g.43809266G>A | GRCh37 |
| NC_000023.9:g.43694210G>A | NCBI36 |
| NG_009832.1:g.28656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.181C>T (NDP) MANE Select | ENSP00000495972.1:p.Leu61Phe | |
| ENST00000647044.1:c.181C>T (NDP) | ENSP00000495811.1:p.Leu61Phe | |
| ENST00000378062.5:c.181C>T (NDP) | ENSP00000367301.5:p.Leu61Phe | |
| ENST00000470584.1:n.225C>T (NDP) | ||
| NM_000266.3:c.181C>T (NDP) | NP_000257.1:p.Leu61Phe | |
| NR_046631.1:n.289G>A (NDP-AS1) | ||
| NM_000266.4:c.181C>T (NDP) MANE Select | NP_000257.1:p.Leu61Phe |