HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926022T>A , CM000681.2:g.3926022T>A | GRCh38 |
NC_000019.9:g.3926020T>A , CM000681.1:g.3926020T>A | GRCh37 |
NC_000019.8:g.3877020T>A | NCBI36 |
NG_012638.1:g.50403T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450849.7:c.*1430T>A MANE Select | ENSP00000390941.1:n.*1430T>A | |
ENST00000450849.6:c.*1430T>A | ENSP00000390941.1:n.*1430T>A | |
ENST00000600960.1:c.2610T>A | ENSP00000470842.1:n.2610T>A | |
ENST00000601323.1:n.440-236T>A | ||
NM_033064.4:c.*1430T>A | NP_149053.1:n.*1430T>A | |
NM_033064.5:c.*1430T>A MANE Select | NP_149053.1:n.*1430T>A |