Revel Score:
ENST00000330883
0.780
ENST00000392968
0.780
ENST00000262186 (MANE Select)
0.780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948476C>G , CM000669.2:g.150948476C>G | GRCh38 |
| NC_000007.13:g.150645564C>G , CM000669.1:g.150645564C>G | GRCh37 |
| NC_000007.12:g.150276497C>G | NCBI36 |
| NG_008916.1:g.34451G>C , LRG_288:g.34451G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3493G>C | ||
| ENST00000262186.10:c.2660G>C MANE Select | ENSP00000262186.5:p.Arg887Pro | |
| ENST00000330883.9:c.1640G>C | ENSP00000328531.4:p.Arg547Pro | |
| ENST00000262186.9:c.2660G>C | ENSP00000262186.5:p.Arg887Pro | |
| ENST00000330883.8:c.1640G>C | ENSP00000328531.4:p.Arg547Pro | |
| NM_000238.3:c.2660G>C , LRG_288t1:c.2660G>C | NP_000229.1:p.Arg887Pro | |
| NM_172057.2:c.1640G>C , LRG_288t3:c.1640G>C | NP_742054.1:p.Arg547Pro | |
| XM_011516185.1:c.2360G>C | XP_011514487.1:p.Arg787Pro | |
| XM_011516186.1:c.2660G>C | XP_011514488.1:p.Arg887Pro | |
| XM_011516185.2:c.2360G>C | XP_011514487.1:p.Arg787Pro | |
| XM_011516186.3:c.2660G>C | XP_011514488.1:p.Arg887Pro | |
| XM_017012195.1:c.2510G>C | XP_016867684.1:p.Arg837Pro | |
| XM_017012196.1:c.2483G>C | XP_016867685.1:p.Arg828Pro | |
| NM_000238.4:c.2660G>C MANE Select | NP_000229.1:p.Arg887Pro | |
| NM_172057.3:c.1640G>C | NP_742054.1:p.Arg547Pro |