HGVS | Genome Assembly |
---|---|
NC_000003.12:g.132680714T>C , CM000665.2:g.132680714T>C | GRCh38 |
NC_000003.11:g.132399558T>C , CM000665.1:g.132399558T>C | GRCh37 |
NC_000003.10:g.133882248T>C | NCBI36 |
NG_008130.1:g.46719A>G | |
NG_008130.2:g.46719A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337331.10:c.*1196A>G (NPHP3) MANE Select | ENSP00000338766.5:n.*1196A>G | |
ENST00000471702.2:c.*1980+1200A>G (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+1200A>G | |
ENST00000474871.5:n.4388A>G (NPHP3) | ||
ENST00000632629.1:c.636+1200A>G (NPHP3-ACAD11) | ||
NM_153240.4:c.*1196A>G (NPHP3) | NP_694972.3:n.*1196A>G | |
NR_037804.1:n.3995+1200A>G (NPHP3-ACAD11) | ||
NM_153240.5:c.*1196A>G (NPHP3) MANE Select | NP_694972.3:n.*1196A>G |