Linked Data
ClinVar Variation Id:
2833339
ClinVar RCV Id:
RCV003691940
dbSNP Id:
rs762339635
ExAC:
X:43817735 A / G
gnomAD v2:
X-43817735-A-G
gnomAD v3:
X-43958489-A-G
gnomAD v4:
X-43958489-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958489A>G , CM000685.2:g.43958489A>G | GRCh38 |
| NC_000023.10:g.43817735A>G , CM000685.1:g.43817735A>G | GRCh37 |
| NC_000023.9:g.43702679A>G | NCBI36 |
| NG_009832.1:g.20187T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.157T>C (NDP) MANE Select | ENSP00000495972.1:p.Tyr53His | |
| ENST00000647044.1:c.157T>C (NDP) | ENSP00000495811.1:p.Tyr53His | |
| ENST00000378062.5:c.157T>C (NDP) | ENSP00000367301.5:p.Tyr53His | |
| ENST00000470584.1:n.218+229T>C (NDP) | ||
| NM_000266.3:c.157T>C (NDP) | NP_000257.1:p.Tyr53His | |
| NR_046631.1:n.467-2296A>G (NDP-AS1) | ||
| NM_000266.4:c.157T>C (NDP) MANE Select | NP_000257.1:p.Tyr53His |