Linked Data
ClinVar Variation Id:
798241
ClinVar RCV Id:
RCV000981771
dbSNP Id:
rs778584609
ExAC:
X:43809060 C / T
gnomAD v2:
X-43809060-C-T
gnomAD v3:
X-43949814-C-T
gnomAD v4:
X-43949814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949814C>T , CM000685.2:g.43949814C>T | GRCh38 |
| NC_000023.10:g.43809060C>T , CM000685.1:g.43809060C>T | GRCh37 |
| NC_000023.9:g.43694004C>T | NCBI36 |
| NG_009832.1:g.28862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.387G>A (NDP) MANE Select | ENSP00000495972.1:p.Glu129= | |
| ENST00000647044.1:c.387G>A (NDP) | ENSP00000495811.1:p.Glu129= | |
| ENST00000378062.5:c.387G>A (NDP) | ENSP00000367301.5:p.Glu129= | |
| ENST00000470584.1:n.431G>A (NDP) | ||
| NM_000266.3:c.387G>A (NDP) | NP_000257.1:p.Glu129= | |
| NR_046631.1:n.83C>T (NDP-AS1) | ||
| NM_000266.4:c.387G>A (NDP) MANE Select | NP_000257.1:p.Glu129= |