Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958857A>G , CM000685.2:g.43958857A>G | GRCh38 |
| NC_000023.10:g.43818103A>G , CM000685.1:g.43818103A>G | GRCh37 |
| NC_000023.9:g.43703047A>G | NCBI36 |
| NG_009832.1:g.19819T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.-207-5T>C (NDP) MANE Select | ENSP00000495972.1:n.-207-5T>C | |
| ENST00000647044.1:c.-207-5T>C (NDP) | ENSP00000495811.1:n.-207-5T>C | |
| ENST00000378062.5:c.-207-5T>C (NDP) | ENSP00000367301.5:n.-207-5T>C | |
| ENST00000470584.1:n.84-5T>C (NDP) | ||
| NM_000266.3:c.-207-5T>C (NDP) | NP_000257.1:n.-207-5T>C | |
| NR_046631.1:n.467-1928A>G (NDP-AS1) | ||
| NM_000266.4:c.-207-5T>C (NDP) MANE Select | NP_000257.1:n.-207-5T>C |