Linked Data
ClinVar Variation Id:
2998376
ClinVar RCV Id:
RCV003857039
dbSNP Id:
rs1256956156
gnomAD v2:
X-43809058-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949812T>C , CM000685.2:g.43949812T>C | GRCh38 |
| NC_000023.10:g.43809058T>C , CM000685.1:g.43809058T>C | GRCh37 |
| NC_000023.9:g.43694002T>C | NCBI36 |
| NG_009832.1:g.28864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.389A>G (NDP) MANE Select | ENSP00000495972.1:p.Glu130Gly | |
| ENST00000647044.1:c.389A>G (NDP) | ENSP00000495811.1:p.Glu130Gly | |
| ENST00000378062.5:c.389A>G (NDP) | ENSP00000367301.5:p.Glu130Gly | |
| ENST00000470584.1:n.433A>G (NDP) | ||
| NM_000266.3:c.389A>G (NDP) | NP_000257.1:p.Glu130Gly | |
| NR_046631.1:n.81T>C (NDP-AS1) | ||
| NM_000266.4:c.389A>G (NDP) MANE Select | NP_000257.1:p.Glu130Gly |