HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49016111A>T , CM000681.2:g.49016111A>T | GRCh38 |
NC_000019.9:g.49519368A>T , CM000681.1:g.49519368A>T | GRCh37 |
NC_000019.8:g.54211180A>T | NCBI36 |
NG_011464.1:g.5980T>A | |
NG_033041.1:g.27213A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649238.3:c.383T>A MANE Select | ENSP00000497294.2:p.Leu128Ter | |
ENST00000649284.1:n.474T>A | ||
ENST00000221421.6:c.383T>A | ENSP00000221421.1:p.Leu128Ter | |
ENST00000391869.4:c.377T>A | ENSP00000375742.4:p.Leu126Ter | |
NM_000894.2:c.383T>A | NP_000885.1:p.Leu128Ter | |
XM_011526975.1:c.431T>A | XP_011525277.1:p.Leu144Ter | |
NM_000894.3:c.383T>A MANE Select | NP_000885.1:p.Leu128Ter |