HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762626G>T , CM000668.2:g.34762626G>T | GRCh38 |
NC_000006.11:g.34730403G>T , CM000668.1:g.34730403G>T | GRCh37 |
NC_000006.10:g.34838381G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.83G>T MANE Select | ENSP00000244520.5:p.Arg28Met | |
ENST00000244520.9:c.83G>T | ENSP00000244520.5:p.Arg28Met | |
ENST00000374017.3:c.146G>T | ENSP00000363129.3:p.Arg49Met | |
ENST00000374018.5:c.-41G>T | ENSP00000363130.1:n.-41G>T | |
ENST00000474635.1:n.75G>T | ||
NM_003093.2:c.83G>T | NP_003084.1:p.Arg28Met | |
NR_029472.1:n.490G>T | ||
NM_003093.3:c.83G>T MANE Select | NP_003084.1:p.Arg28Met | |
NR_029472.2:n.79G>T |