HGVS | Genome Assembly |
---|---|
NC_000003.12:g.132680758A>T , CM000665.2:g.132680758A>T | GRCh38 |
NC_000003.11:g.132399602A>T , CM000665.1:g.132399602A>T | GRCh37 |
NC_000003.10:g.133882292A>T | NCBI36 |
NG_008130.1:g.46675T>A | |
NG_008130.2:g.46675T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337331.10:c.*1152T>A (NPHP3) MANE Select | ENSP00000338766.5:n.*1152T>A | |
ENST00000471702.2:c.*1980+1156T>A (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+1156T>A | |
ENST00000474871.5:n.4344T>A (NPHP3) | ||
ENST00000632629.1:c.636+1156T>A (NPHP3-ACAD11) | ||
NM_153240.4:c.*1152T>A (NPHP3) | NP_694972.3:n.*1152T>A | |
NR_037804.1:n.3995+1156T>A (NPHP3-ACAD11) | ||
NM_153240.5:c.*1152T>A (NPHP3) MANE Select | NP_694972.3:n.*1152T>A |