HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945597G= , CM000665.2:g.138945597G= | GRCh38 |
NC_000003.11:g.138664439G= , CM000665.1:g.138664439G= | GRCh37 |
NC_000003.10:g.140147129G= | NCBI36 |
NG_012454.1:g.6544C= | |
NG_029796.1:g.3364G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.1126C= MANE Select | ENSP00000497217.1:p.Leu376= | |
ENST00000330315.3:c.1126C= | ENSP00000333188.3:p.Leu376= | |
NM_023067.3:c.1126C= | NP_075555.1:p.Leu376= | |
NM_023067.4:c.1126C= MANE Select | NP_075555.1:p.Leu376= |