HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64753525T>C , CM000673.2:g.64753525T>C | GRCh38 |
NC_000011.9:g.64520997T>C , CM000673.1:g.64520997T>C | GRCh37 |
NC_000011.8:g.64277573T>C | NCBI36 |
NG_013018.1:g.12191A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.1397A>G MANE Select | ENSP00000164139.3:p.Lys466Arg | |
ENST00000164139.3:c.1397A>G | ENSP00000164139.3:p.Lys466Arg | |
ENST00000377432.7:c.1133A>G | ENSP00000366650.3:p.Lys378Arg | |
NM_001164716.1:c.1133A>G | NP_001158188.1:p.Lys378Arg | |
NM_005609.2:c.1397A>G | NP_005600.1:p.Lys466Arg | |
NM_005609.3:c.1397A>G | NP_005600.1:p.Lys466Arg | |
NM_005609.4:c.1397A>G MANE Select | NP_005600.1:p.Lys466Arg |