HGVS | Genome Assembly |
---|---|
NC_000002.12:g.10448045G= , CM000664.2:g.10448045G= | GRCh38 |
NC_000002.11:g.10588171G= , CM000664.1:g.10588171G= | GRCh37 |
NC_000002.10:g.10505622G= | NCBI36 |
NG_012105.1:g.5283C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000446285.6:c.-128+76C= | ENSP00000514632.1:n.-128+76C= | |
ENST00000699836.1:c.-18+76C= | ENSP00000514634.1:n.-18+76C= | |
ENST00000234111.9:c.-128+76C= MANE Select | ENSP00000234111.4:n.-128+76C= | |
ENST00000234111.8:c.-128+76C= | ENSP00000234111.4:n.-128+76C= | |
ENST00000446285.5:n.189+76C= | ||
NM_001287188.1:c.-415+76C= | NP_001274117.1:n.-415+76C= | |
NM_002539.2:c.-128+76C= | NP_002530.1:n.-128+76C= | |
NM_002539.3:c.-128+76C= MANE Select | NP_002530.1:n.-128+76C= | |
NM_001287188.2:c.-415+76C= | NP_001274117.1:n.-415+76C= |