Revel Score:
ENST00000485511 (MANE Select)
0.413
ENST00000394110
0.413
ENST00000472118
0.413
ENST00000541610
0.413
ENST00000461010
0.413
ENST00000470467
0.868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43007262G>C , CM000668.2:g.43007262G>C | GRCh38 |
| NC_000006.11:g.42975000G>C , CM000668.1:g.42975000G>C | GRCh37 |
| NC_000006.10:g.43082978G>C | NCBI36 |
| NG_050636.1:g.27764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485511.6:c.589G>C (PPP2R5D) MANE Select | ENSP00000417963.1:p.Glu197Gln | |
| ENST00000676174.1:n.248G>C (PPP2R5D) | ||
| ENST00000230402.10:c.*270G>C (PPP2R5D) | ENSP00000230402.6:n.*270G>C | |
| ENST00000394110.7:c.493G>C (PPP2R5D) | ENSP00000377669.3:p.Glu165Gln | |
| ENST00000461010.5:c.271G>C (PPP2R5D) | ENSP00000420674.1:p.Glu91Gln | |
| ENST00000467447.1:n.166G>C (PPP2R5D) | ||
| ENST00000470467.5:c.347G>C (PPP2R5D) | ||
| ENST00000472118.5:c.565G>C (PPP2R5D) | ENSP00000420550.1:p.Glu189Gln | |
| ENST00000485511.5:c.589G>C (PPP2R5D) | ENSP00000417963.1:p.Glu197Gln | |
| NM_001270476.1:c.136G>C (PPP2R5D) | NP_001257405.1:p.Glu46Gln | |
| NM_006245.3:c.589G>C (PPP2R5D) | NP_006236.1:p.Glu197Gln | |
| NM_180976.2:c.493G>C (PPP2R5D) | NP_851307.1:p.Glu165Gln | |
| NM_180977.2:c.271G>C (PPP2R5D) | NP_851308.1:p.Glu91Gln | |
| XM_005249123.1:c.367+5664C>G (MEA1) | XP_005249180.1:n.367+5664C>G | |
| XM_017010868.1:c.367+5664C>G (MEA1) | XP_016866357.1:n.367+5664C>G | |
| NM_006245.4:c.589G>C (PPP2R5D) MANE Select | NP_006236.1:p.Glu197Gln | |
| NM_001270476.2:c.136G>C (PPP2R5D) | NP_001257405.1:p.Glu46Gln | |
| NM_180976.3:c.493G>C (PPP2R5D) | NP_851307.1:p.Glu165Gln | |
| NM_180977.3:c.271G>C (PPP2R5D) | NP_851308.1:p.Glu91Gln |