Linked Data
ClinVar Variation Id:
2048002
ClinVar RCV Id:
RCV002918469
dbSNP Id:
rs1351729523
gnomAD v2:
X-43817706-C-T
gnomAD v3:
X-43958460-C-T
gnomAD v4:
X-43958460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958460C>T , CM000685.2:g.43958460C>T | GRCh38 |
| NC_000023.10:g.43817706C>T , CM000685.1:g.43817706C>T | GRCh37 |
| NC_000023.9:g.43702650C>T | NCBI36 |
| NG_009832.1:g.20216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.174+12G>A (NDP) MANE Select | ENSP00000495972.1:n.174+12G>A | |
| ENST00000647044.1:c.174+12G>A (NDP) | ENSP00000495811.1:n.174+12G>A | |
| ENST00000378062.5:c.174+12G>A (NDP) | ENSP00000367301.5:n.174+12G>A | |
| ENST00000470584.1:n.218+258G>A (NDP) | ||
| NM_000266.3:c.174+12G>A (NDP) | NP_000257.1:n.174+12G>A | |
| NR_046631.1:n.467-2325C>T (NDP-AS1) | ||
| NM_000266.4:c.174+12G>A (NDP) MANE Select | NP_000257.1:n.174+12G>A |