Linked Data
ClinVar Variation Id:
1127523
ClinVar RCV Id:
RCV001459966
dbSNP Id:
rs762426277
gnomAD v2:
X-43817711-G-A
gnomAD v3:
X-43958465-G-A
gnomAD v4:
X-43958465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958465G>A , CM000685.2:g.43958465G>A | GRCh38 |
| NC_000023.10:g.43817711G>A , CM000685.1:g.43817711G>A | GRCh37 |
| NC_000023.9:g.43702655G>A | NCBI36 |
| NG_009832.1:g.20211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.174+7C>T (NDP) MANE Select | ENSP00000495972.1:n.174+7C>T | |
| ENST00000647044.1:c.174+7C>T (NDP) | ENSP00000495811.1:n.174+7C>T | |
| ENST00000378062.5:c.174+7C>T (NDP) | ENSP00000367301.5:n.174+7C>T | |
| ENST00000470584.1:n.218+253C>T (NDP) | ||
| NM_000266.3:c.174+7C>T (NDP) | NP_000257.1:n.174+7C>T | |
| NR_046631.1:n.467-2320G>A (NDP-AS1) | ||
| NM_000266.4:c.174+7C>T (NDP) MANE Select | NP_000257.1:n.174+7C>T |