HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43949853G>A , CM000685.2:g.43949853G>A | GRCh38 |
NC_000023.10:g.43809099G>A , CM000685.1:g.43809099G>A | GRCh37 |
NC_000023.9:g.43694043G>A | NCBI36 |
NG_009832.1:g.28823C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000642620.1:c.348C>T (NDP) MANE Select | ENSP00000495972.1:p.Leu116= | |
ENST00000647044.1:c.348C>T (NDP) | ENSP00000495811.1:p.Leu116= | |
ENST00000378062.5:c.348C>T (NDP) | ENSP00000367301.5:p.Leu116= | |
ENST00000470584.1:n.392C>T (NDP) | ||
NM_000266.3:c.348C>T (NDP) | NP_000257.1:p.Leu116= | |
NR_046631.1:n.122G>A (NDP-AS1) | ||
NM_000266.4:c.348C>T (NDP) MANE Select | NP_000257.1:p.Leu116= |