Linked Data
ClinVar Variation Id:
1429874
ClinVar RCV Id:
RCV001939150
dbSNP Id:
rs779934385
ExAC:
X:43817790 C / T
gnomAD v2:
X-43817790-C-T
gnomAD v4:
X-43958544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958544C>T , CM000685.2:g.43958544C>T | GRCh38 |
| NC_000023.10:g.43817790C>T , CM000685.1:g.43817790C>T | GRCh37 |
| NC_000023.9:g.43702734C>T | NCBI36 |
| NG_009832.1:g.20132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.102G>A (NDP) MANE Select | ENSP00000495972.1:p.Ser34= | |
| ENST00000647044.1:c.102G>A (NDP) | ENSP00000495811.1:p.Ser34= | |
| ENST00000378062.5:c.102G>A (NDP) | ENSP00000367301.5:p.Ser34= | |
| ENST00000470584.1:n.218+174G>A (NDP) | ||
| NM_000266.3:c.102G>A (NDP) | NP_000257.1:p.Ser34= | |
| NR_046631.1:n.467-2241C>T (NDP-AS1) | ||
| NM_000266.4:c.102G>A (NDP) MANE Select | NP_000257.1:p.Ser34= |