Linked Data
ClinVar Variation Id:
1638342
ClinVar RCV Id:
RCV002138048
dbSNP Id:
rs2035751096
gnomAD v4:
X-43949952-A-G
MyVariant Identifiers:
chrX:g.43809198A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949952A>G , CM000685.2:g.43949952A>G | GRCh38 |
| NC_000023.10:g.43809198A>G , CM000685.1:g.43809198A>G | GRCh37 |
| NC_000023.9:g.43694142A>G | NCBI36 |
| NG_009832.1:g.28724T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.249T>C (NDP) MANE Select | ENSP00000495972.1:p.Thr83= | |
| ENST00000647044.1:c.249T>C (NDP) | ENSP00000495811.1:p.Thr83= | |
| ENST00000378062.5:c.249T>C (NDP) | ENSP00000367301.5:p.Thr83= | |
| ENST00000470584.1:n.293T>C (NDP) | ||
| NM_000266.3:c.249T>C (NDP) | NP_000257.1:p.Thr83= | |
| NR_046631.1:n.221A>G (NDP-AS1) | ||
| NM_000266.4:c.249T>C (NDP) MANE Select | NP_000257.1:p.Thr83= |