Linked Data
ClinVar Variation Id:
373948
ClinVar RCV Id:
RCV000415091
dbSNP Id:
rs1057518793
gnomAD v4:
X-43949933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949933G>A , CM000685.2:g.43949933G>A | GRCh38 |
| NC_000023.10:g.43809179G>A , CM000685.1:g.43809179G>A | GRCh37 |
| NC_000023.9:g.43694123G>A | NCBI36 |
| NG_009832.1:g.28743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.268C>T (NDP) MANE Select | ENSP00000495972.1:p.Arg90Cys | |
| ENST00000647044.1:c.268C>T (NDP) | ENSP00000495811.1:p.Arg90Cys | |
| ENST00000378062.5:c.268C>T (NDP) | ENSP00000367301.5:p.Arg90Cys | |
| ENST00000470584.1:n.312C>T (NDP) | ||
| NM_000266.3:c.268C>T (NDP) | NP_000257.1:p.Arg90Cys | |
| NR_046631.1:n.202G>A (NDP-AS1) | ||
| NM_000266.4:c.268C>T (NDP) MANE Select | NP_000257.1:p.Arg90Cys |