HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43949829G>A , CM000685.2:g.43949829G>A | GRCh38 |
NC_000023.10:g.43809075G>A , CM000685.1:g.43809075G>A | GRCh37 |
NC_000023.9:g.43694019G>A | NCBI36 |
NG_009832.1:g.28847C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642620.1:c.372C>T (NDP) MANE Select | ENSP00000495972.1:p.Leu124= | |
ENST00000647044.1:c.372C>T (NDP) | ENSP00000495811.1:p.Leu124= | |
ENST00000378062.5:c.372C>T (NDP) | ENSP00000367301.5:p.Leu124= | |
ENST00000470584.1:n.416C>T (NDP) | ||
NM_000266.3:c.372C>T (NDP) | NP_000257.1:p.Leu124= | |
NR_046631.1:n.98G>A (NDP-AS1) | ||
NM_000266.4:c.372C>T (NDP) MANE Select | NP_000257.1:p.Leu124= |