Linked Data
ClinVar Variation Id:
1373871
ClinVar RCV Id:
RCV001882960
dbSNP Id:
rs1460859456
gnomAD v2:
X-43809247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43950001C>T , CM000685.2:g.43950001C>T | GRCh38 |
| NC_000023.10:g.43809247C>T , CM000685.1:g.43809247C>T | GRCh37 |
| NC_000023.9:g.43694191C>T | NCBI36 |
| NG_009832.1:g.28675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.200G>A (NDP) MANE Select | ENSP00000495972.1:p.Gly67Glu | |
| ENST00000647044.1:c.200G>A (NDP) | ENSP00000495811.1:p.Gly67Glu | |
| ENST00000378062.5:c.200G>A (NDP) | ENSP00000367301.5:p.Gly67Glu | |
| ENST00000470584.1:n.244G>A (NDP) | ||
| NM_000266.3:c.200G>A (NDP) | NP_000257.1:p.Gly67Glu | |
| NR_046631.1:n.270C>T (NDP-AS1) | ||
| NM_000266.4:c.200G>A (NDP) MANE Select | NP_000257.1:p.Gly67Glu |