HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228131C>A , CM000679.2:g.66228131C>A | GRCh38 |
NC_000017.10:g.64224249C>A , CM000679.1:g.64224249C>A | GRCh37 |
NC_000017.9:g.61654711C>A | NCBI36 |
NG_012045.1:g.6308G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.130G>T MANE Select | ENSP00000205948.6:p.Gly44Ter | |
ENST00000205948.10:c.130G>T | ENSP00000205948.6:p.Gly44Ter | |
ENST00000577982.1:c.130G>T | ENSP00000464301.1:p.Gly44Ter | |
ENST00000581797.5:c.-51G>T | ENSP00000463553.1:n.-51G>T | |
NM_000042.2:c.130G>T | NP_000033.2:p.Gly44Ter | |
NM_000042.3:c.130G>T MANE Select | NP_000033.2:p.Gly44Ter |