HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3925946A>G , CM000681.2:g.3925946A>G | GRCh38 |
NC_000019.9:g.3925944A>G , CM000681.1:g.3925944A>G | GRCh37 |
NC_000019.8:g.3876944A>G | NCBI36 |
NG_012638.1:g.50327A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450849.7:c.*1354A>G MANE Select | ENSP00000390941.1:n.*1354A>G | |
ENST00000450849.6:c.*1354A>G | ENSP00000390941.1:n.*1354A>G | |
ENST00000600960.1:c.2534A>G | ENSP00000470842.1:n.2534A>G | |
ENST00000601323.1:n.439+225A>G | ||
NM_033064.4:c.*1354A>G | NP_149053.1:n.*1354A>G | |
NM_033064.5:c.*1354A>G MANE Select | NP_149053.1:n.*1354A>G |