HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92645572C>T , CM000672.2:g.92645572C>T | GRCh38 |
NC_000010.10:g.94405329C>T , CM000672.1:g.94405329C>T | GRCh37 |
NC_000010.9:g.94395309C>T | NCBI36 |
NG_032580.1:g.57505C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2477C>T MANE Select | ENSP00000260731.3:p.Thr826Ile | |
ENST00000676621.1:c.*995C>T | ENSP00000503639.1:n.*995C>T | |
ENST00000676647.1:c.2270C>T | ENSP00000503394.1:p.Thr757Ile | |
ENST00000676757.1:c.2270C>T | ENSP00000504289.1:p.Thr757Ile | |
ENST00000677720.1:c.*451C>T | ENSP00000504840.1:n.*451C>T | |
ENST00000260731.4:c.2477C>T | ENSP00000260731.3:p.Thr826Ile | |
NM_004523.3:c.2477C>T | NP_004514.2:p.Thr826Ile | |
NM_004523.4:c.2477C>T MANE Select | NP_004514.2:p.Thr826Ile |