Linked Data
dbSNP Id:
rs104894867
ExAC:
X:43809178 C / A
gnomAD v2:
X-43809178-C-A
gnomAD v4:
X-43949932-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949932C>A , CM000685.2:g.43949932C>A | GRCh38 |
| NC_000023.10:g.43809178C>A , CM000685.1:g.43809178C>A | GRCh37 |
| NC_000023.9:g.43694122C>A | NCBI36 |
| NG_009832.1:g.28744G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.269G>T (NDP) MANE Select | ENSP00000495972.1:p.Arg90Leu | |
| ENST00000647044.1:c.269G>T (NDP) | ENSP00000495811.1:p.Arg90Leu | |
| ENST00000378062.5:c.269G>T (NDP) | ENSP00000367301.5:p.Arg90Leu | |
| ENST00000470584.1:n.313G>T (NDP) | ||
| NM_000266.3:c.269G>T (NDP) | NP_000257.1:p.Arg90Leu | |
| NR_046631.1:n.201C>A (NDP-AS1) | ||
| NM_000266.4:c.269G>T (NDP) MANE Select | NP_000257.1:p.Arg90Leu |