Linked Data
ClinVar Variation Id:
2673226
ClinVar RCV Id:
RCV003457180
dbSNP Id:
rs751217173
ExAC:
X:43809261 C / A
gnomAD v2:
X-43809261-C-A
gnomAD v3:
X-43950015-C-A
gnomAD v4:
X-43950015-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43950015C>A , CM000685.2:g.43950015C>A | GRCh38 |
| NC_000023.10:g.43809261C>A , CM000685.1:g.43809261C>A | GRCh37 |
| NC_000023.9:g.43694205C>A | NCBI36 |
| NG_009832.1:g.28661G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.186G>T (NDP) MANE Select | ENSP00000495972.1:p.Leu62= | |
| ENST00000647044.1:c.186G>T (NDP) | ENSP00000495811.1:p.Leu62= | |
| ENST00000378062.5:c.186G>T (NDP) | ENSP00000367301.5:p.Leu62= | |
| ENST00000470584.1:n.230G>T (NDP) | ||
| NM_000266.3:c.186G>T (NDP) | NP_000257.1:p.Leu62= | |
| NR_046631.1:n.284C>A (NDP-AS1) | ||
| NM_000266.4:c.186G>T (NDP) MANE Select | NP_000257.1:p.Leu62= |