HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4734420G>T , CM000679.2:g.4734420G>T | GRCh38 |
NC_000017.10:g.4637715G>T , CM000679.1:g.4637715G>T | GRCh37 |
NC_000017.9:g.4584464G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000293778.12:c.*83C>A MANE Select | ENSP00000293778.7:n.*83C>A | |
ENST00000574412.6:c.*186C>A | ENSP00000459592.2:n.*186C>A | |
ENST00000293778.10:c.*83C>A | ENSP00000293778.6:n.*83C>A | |
ENST00000574412.5:c.*186C>A | ENSP00000459592.1:n.*186C>A | |
ENST00000576153.5:n.639C>A | ||
NM_022059.3:c.*83C>A | NP_071342.2:n.*83C>A | |
NM_022059.4:c.*83C>A | NP_071342.2:n.*83C>A | |
NM_001386809.1:c.*83C>A MANE Select | NP_001373738.1:n.*83C>A |