Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949934G= , CM000685.2:g.43949934G= | GRCh38 |
| NC_000023.10:g.43809180G= , CM000685.1:g.43809180G= | GRCh37 |
| NC_000023.9:g.43694124G= | NCBI36 |
| NG_009832.1:g.28742C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.267C= (NDP) MANE Select | ENSP00000495972.1:p.Phe89= | |
| ENST00000647044.1:c.267C= (NDP) | ENSP00000495811.1:p.Phe89= | |
| ENST00000378062.5:c.267C= (NDP) | ENSP00000367301.5:p.Phe89= | |
| ENST00000470584.1:n.311C= (NDP) | ||
| NM_000266.3:c.267C= (NDP) | NP_000257.1:p.Phe89= | |
| NR_046631.1:n.203G= (NDP-AS1) | ||
| NM_000266.4:c.267C= (NDP) MANE Select | NP_000257.1:p.Phe89= |