Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949986G>T , CM000685.2:g.43949986G>T | GRCh38 |
| NC_000023.10:g.43809232G>T , CM000685.1:g.43809232G>T | GRCh37 |
| NC_000023.9:g.43694176G>T | NCBI36 |
| NG_009832.1:g.28690C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.215C>A (NDP) MANE Select | ENSP00000495972.1:p.Ala72Glu | |
| ENST00000647044.1:c.215C>A (NDP) | ENSP00000495811.1:p.Ala72Glu | |
| ENST00000378062.5:c.215C>A (NDP) | ENSP00000367301.5:p.Ala72Glu | |
| ENST00000470584.1:n.259C>A (NDP) | ||
| NM_000266.3:c.215C>A (NDP) | NP_000257.1:p.Ala72Glu | |
| NR_046631.1:n.255G>T (NDP-AS1) | ||
| NM_000266.4:c.215C>A (NDP) MANE Select | NP_000257.1:p.Ala72Glu |