Revel Score:
ENST00000254108 (MANE Select)
0.492
ENST00000394533
0.492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31190398C>G , CM000678.2:g.31190398C>G | GRCh38 |
| NC_000016.9:g.31201719C>G , CM000678.1:g.31201719C>G | GRCh37 |
| NC_000016.8:g.31109220C>G | NCBI36 |
| NG_012889.2:g.15267C>G , LRG_655:g.15267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1292C>G MANE Select | ENSP00000254108.8:p.Pro431Arg | |
| ENST00000254108.11:c.1292C>G | ENSP00000254108.7:p.Pro431Arg | |
| ENST00000380244.7:c.1289C>G | ENSP00000369594.3:p.Pro430Arg | |
| ENST00000474990.5:n.586C>G | ||
| ENST00000483853.1:n.26C>G | ||
| ENST00000487509.6:n.4467C>G | ||
| ENST00000566605.5:c.*465C>G | ENSP00000455073.1:n.*465C>G | |
| ENST00000568685.1:c.1295C>G | ENSP00000455282.1:p.Pro432Arg | |
| ENST00000569760.5:n.183C>G | ||
| NM_001170634.1:c.1289C>G | NP_001164105.1:p.Pro430Arg | |
| NM_001170937.1:c.1280C>G | NP_001164408.1:p.Pro427Arg | |
| NM_004960.3:c.1292C>G , LRG_655t1:c.1292C>G | NP_004951.1:p.Pro431Arg | |
| NR_028388.2:n.1362C>G | ||
| XM_005255233.3:c.677C>G | XP_005255290.1:p.Pro226Arg | |
| XM_011545781.1:c.1286C>G | XP_011544083.1:p.Pro429Arg | |
| XM_011545782.1:c.677C>G | XP_011544084.1:p.Pro226Arg | |
| XM_005255233.5:c.677C>G | XP_005255290.1:p.Pro226Arg | |
| XM_011545782.2:c.677C>G | XP_011544084.1:p.Pro226Arg | |
| XM_024450221.1:c.1283C>G | XP_024305989.1:p.Pro428Arg | |
| NM_004960.4:c.1292C>G MANE Select | NP_004951.1:p.Pro431Arg |