HGVS | Genome Assembly |
---|---|
NC_000003.12:g.132680735A>G , CM000665.2:g.132680735A>G | GRCh38 |
NC_000003.11:g.132399579A>G , CM000665.1:g.132399579A>G | GRCh37 |
NC_000003.10:g.133882269A>G | NCBI36 |
NG_008130.1:g.46698T>C | |
NG_008130.2:g.46698T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337331.10:c.*1175T>C (NPHP3) MANE Select | ENSP00000338766.5:n.*1175T>C | |
ENST00000471702.2:c.*1980+1179T>C (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+1179T>C | |
ENST00000474871.5:n.4367T>C (NPHP3) | ||
ENST00000632629.1:c.636+1179T>C (NPHP3-ACAD11) | ||
NM_153240.4:c.*1175T>C (NPHP3) | NP_694972.3:n.*1175T>C | |
NR_037804.1:n.3995+1179T>C (NPHP3-ACAD11) | ||
NM_153240.5:c.*1175T>C (NPHP3) MANE Select | NP_694972.3:n.*1175T>C |