HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43958499A>C , CM000685.2:g.43958499A>C | GRCh38 |
NC_000023.10:g.43817745A>C , CM000685.1:g.43817745A>C | GRCh37 |
NC_000023.9:g.43702689A>C | NCBI36 |
NG_009832.1:g.20177T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642620.1:c.147T>G (NDP) MANE Select | ENSP00000495972.1:p.Ser49Arg | |
ENST00000647044.1:c.147T>G (NDP) | ENSP00000495811.1:p.Ser49Arg | |
ENST00000378062.5:c.147T>G (NDP) | ENSP00000367301.5:p.Ser49Arg | |
ENST00000470584.1:n.218+219T>G (NDP) | ||
NM_000266.3:c.147T>G (NDP) | NP_000257.1:p.Ser49Arg | |
NR_046631.1:n.467-2286A>C (NDP-AS1) | ||
NM_000266.4:c.147T>G (NDP) MANE Select | NP_000257.1:p.Ser49Arg |