Linked Data
ClinVar Variation Id:
10691
dbSNP Id:
rs104894874
ExAC:
X:43817767 T / C
gnomAD v2:
X-43817767-T-C
gnomAD v4:
X-43958521-T-C
PubMed:
PMID:9143917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958521T>C , CM000685.2:g.43958521T>C | GRCh38 |
| NC_000023.10:g.43817767T>C , CM000685.1:g.43817767T>C | GRCh37 |
| NC_000023.9:g.43702711T>C | NCBI36 |
| NG_009832.1:g.20155A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.125A>G (NDP) MANE Select | ENSP00000495972.1:p.His42Arg | |
| ENST00000647044.1:c.125A>G (NDP) | ENSP00000495811.1:p.His42Arg | |
| ENST00000378062.5:c.125A>G (NDP) | ENSP00000367301.5:p.His42Arg | |
| ENST00000470584.1:n.218+197A>G (NDP) | ||
| NM_000266.3:c.125A>G (NDP) | NP_000257.1:p.His42Arg | |
| NR_046631.1:n.467-2264T>C (NDP-AS1) | ||
| NM_000266.4:c.125A>G (NDP) MANE Select | NP_000257.1:p.His42Arg |