Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949831G= , CM000685.2:g.43949831G= | GRCh38 |
| NC_000023.10:g.43809077G= , CM000685.1:g.43809077G= | GRCh37 |
| NC_000023.9:g.43694021G= | NCBI36 |
| NG_009832.1:g.28845C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000266.4:c.370C= (NDP) MANE Select | NP_000257.1:p.Leu124= |
| ENST00000642620.1:c.370C= (NDP) MANE Select | ENSP00000495972.1:p.Leu124= |
| NM_000266.3:c.370C= (NDP) | NP_000257.1:p.Leu124= |
| NR_046631.1:n.100G= (NDP-AS1) | |
| ENST00000378062.5:c.370C= (NDP) | ENSP00000367301.5:p.Leu124= |
| ENST00000470584.1:n.414C= (NDP) | |
| ENST00000647044.1:c.370C= (NDP) | ENSP00000495811.1:p.Leu124= |