HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926043T>G , CM000681.2:g.3926043T>G | GRCh38 |
NC_000019.9:g.3926041T>G , CM000681.1:g.3926041T>G | GRCh37 |
NC_000019.8:g.3877041T>G | NCBI36 |
NG_012638.1:g.50424T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450849.7:c.*1451T>G MANE Select | ENSP00000390941.1:n.*1451T>G | |
ENST00000450849.6:c.*1451T>G | ENSP00000390941.1:n.*1451T>G | |
ENST00000600960.1:c.2631T>G | ENSP00000470842.1:n.2631T>G | |
ENST00000601323.1:n.440-215T>G | ||
NM_033064.4:c.*1451T>G | NP_149053.1:n.*1451T>G | |
NM_033064.5:c.*1451T>G MANE Select | NP_149053.1:n.*1451T>G |