HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945360A>C , CM000665.2:g.138945360A>C | GRCh38 |
NC_000003.11:g.138664202A>C , CM000665.1:g.138664202A>C | GRCh37 |
NC_000003.10:g.140146892A>C | NCBI36 |
NG_012454.1:g.6781T>G | |
NG_029796.1:g.3127A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.*232T>G MANE Select | ENSP00000497217.1:n.*232T>G | |
ENST00000330315.3:c.*232T>G | ENSP00000333188.3:n.*232T>G | |
NM_023067.3:c.*232T>G | NP_075555.1:n.*232T>G | |
NM_023067.4:c.*232T>G MANE Select | NP_075555.1:n.*232T>G |