Linked Data
gnomAD v4:
X-43949923-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949923C>A , CM000685.2:g.43949923C>A | GRCh38 |
| NC_000023.10:g.43809169C>A , CM000685.1:g.43809169C>A | GRCh37 |
| NC_000023.9:g.43694113C>A | NCBI36 |
| NG_009832.1:g.28753G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.278G>T (NDP) MANE Select | ENSP00000495972.1:p.Cys93Phe | |
| ENST00000647044.1:c.278G>T (NDP) | ENSP00000495811.1:p.Cys93Phe | |
| ENST00000378062.5:c.278G>T (NDP) | ENSP00000367301.5:p.Cys93Phe | |
| ENST00000470584.1:n.322G>T (NDP) | ||
| NM_000266.3:c.278G>T (NDP) | NP_000257.1:p.Cys93Phe | |
| NR_046631.1:n.192C>A (NDP-AS1) | ||
| NM_000266.4:c.278G>T (NDP) MANE Select | NP_000257.1:p.Cys93Phe |