HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762629A>G , CM000668.2:g.34762629A>G | GRCh38 |
NC_000006.11:g.34730406A>G , CM000668.1:g.34730406A>G | GRCh37 |
NC_000006.10:g.34838384A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.86A>G MANE Select | ENSP00000244520.5:p.Lys29Arg | |
ENST00000244520.9:c.86A>G | ENSP00000244520.5:p.Lys29Arg | |
ENST00000374017.3:c.149A>G | ENSP00000363129.3:p.Lys50Arg | |
ENST00000374018.5:c.-38A>G | ENSP00000363130.1:n.-38A>G | |
ENST00000474635.1:n.78A>G | ||
NM_003093.2:c.86A>G | NP_003084.1:p.Lys29Arg | |
NR_029472.1:n.493A>G | ||
NM_003093.3:c.86A>G MANE Select | NP_003084.1:p.Lys29Arg | |
NR_029472.2:n.82A>G |