Revel Score:
ENST00000259881 (MANE Select)
0.033
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31138722G>C , CM000668.2:g.31138722G>C | GRCh38 |
| NC_000006.11:g.31106499G>C , CM000668.1:g.31106499G>C | GRCh37 |
| NC_000006.10:g.31214478G>C | NCBI36 |
| NG_021348.1:g.28892G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259845.5:c.55+250C>G (PSORS1C2) MANE Select | ENSP00000259845.4:n.55+250C>G | |
| ENST00000259881.10:c.110G>C (PSORS1C1) MANE Select | ENSP00000259881.9:p.Arg37Pro | |
| ENST00000259845.4:c.55+250C>G (PSORS1C2) | ENSP00000259845.4:n.55+250C>G | |
| ENST00000259881.9:c.110G>C (PSORS1C1) | ENSP00000259881.9:p.Arg37Pro | |
| ENST00000479581.5:n.62-919G>C (PSORS1C1) | ||
| ENST00000481450.2:c.-23+263G>C (PSORS1C1) | ENSP00000447158.1:n.-23+263G>C | |
| ENST00000547221.1:c.-35G>C (PSORS1C1) | ENSP00000449471.1:n.-35G>C | |
| ENST00000550838.1:n.523G>C (PSORS1C1) | ||
| ENST00000552747.1:n.417G>C (PSORS1C1) | ||
| NM_014068.2:c.110G>C (PSORS1C1) | NP_054787.2:p.Arg37Pro | |
| NM_014069.2:c.55+250C>G (PSORS1C2) | NP_054788.2:n.55+250C>G | |
| NM_014069.3:c.55+250C>G (PSORS1C2) MANE Select | NP_054788.2:n.55+250C>G | |
| NM_014068.3:c.110G>C (PSORS1C1) MANE Select | NP_054787.2:p.Arg37Pro |