HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946041C= , CM000665.2:g.138946041C= | GRCh38 |
NC_000003.11:g.138664883C= , CM000665.1:g.138664883C= | GRCh37 |
NC_000003.10:g.140147573C= | NCBI36 |
NG_012454.1:g.6100G= | |
NG_029796.1:g.3808C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.682G= MANE Select | ENSP00000497217.1:p.Ala228= | |
ENST00000330315.3:c.682G= | ENSP00000333188.3:p.Ala228= | |
NM_023067.3:c.682G= | NP_075555.1:p.Ala228= | |
NM_023067.4:c.682G= MANE Select | NP_075555.1:p.Ala228= |