Linked Data
ClinVar Variation Id:
1582706
ClinVar RCV Id:
RCV002091176
dbSNP Id:
rs2035751690
gnomAD v4:
X-43949991-G-A
MyVariant Identifiers:
chrX:g.43809237G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949991G>A , CM000685.2:g.43949991G>A | GRCh38 |
| NC_000023.10:g.43809237G>A , CM000685.1:g.43809237G>A | GRCh37 |
| NC_000023.9:g.43694181G>A | NCBI36 |
| NG_009832.1:g.28685C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.210C>T (NDP) MANE Select | ENSP00000495972.1:p.Ser70= | |
| ENST00000647044.1:c.210C>T (NDP) | ENSP00000495811.1:p.Ser70= | |
| ENST00000378062.5:c.210C>T (NDP) | ENSP00000367301.5:p.Ser70= | |
| ENST00000470584.1:n.254C>T (NDP) | ||
| NM_000266.3:c.210C>T (NDP) | NP_000257.1:p.Ser70= | |
| NR_046631.1:n.260G>A (NDP-AS1) | ||
| NM_000266.4:c.210C>T (NDP) MANE Select | NP_000257.1:p.Ser70= |