HGVS | Genome Assembly |
---|---|
NC_000015.10:g.78534694T>C , CM000677.2:g.78534694T>C | GRCh38 |
NC_000015.9:g.78827036T>C , CM000677.1:g.78827036T>C | GRCh37 |
NC_000015.8:g.76614091T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388988.9:c.*1024T>C MANE Select | ENSP00000373640.4:n.*1024T>C | |
ENST00000408962.6:c.662-2606T>C | ENSP00000386197.2:n.662-2606T>C | |
ENST00000563233.2:c.662-2606T>C | ENSP00000454850.1:n.662-2606T>C | |
ENST00000569878.5:c.2146T>C | ENSP00000455459.1:n.2146T>C | |
NM_001083612.1:c.662-2606T>C | NP_001077081.1:n.662-2606T>C | |
NM_001013619.3:c.*1024T>C | NP_001013641.2:n.*1024T>C | |
NM_001013619.4:c.*1024T>C MANE Select | NP_001013641.2:n.*1024T>C | |
NM_001083612.2:c.662-2606T>C | NP_001077081.1:n.662-2606T>C |