Revel Score:
ENST00000330883
0.944
ENST00000392968
0.944
ENST00000262186 (MANE Select)
0.944
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947477C>G , CM000669.2:g.150947477C>G | GRCh38 |
| NC_000007.13:g.150644565C>G , CM000669.1:g.150644565C>G | GRCh37 |
| NC_000007.12:g.150275498C>G | NCBI36 |
| NG_008916.1:g.35450G>C , LRG_288:g.35450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3836G>C | ||
| ENST00000262186.10:c.3003G>C MANE Select | ENSP00000262186.5:p.Trp1001Cys | |
| ENST00000330883.9:c.1983G>C | ENSP00000328531.4:p.Trp661Cys | |
| ENST00000262186.9:c.3003G>C | ENSP00000262186.5:p.Trp1001Cys | |
| ENST00000330883.8:c.1983G>C | ENSP00000328531.4:p.Trp661Cys | |
| NM_000238.3:c.3003G>C , LRG_288t1:c.3003G>C | NP_000229.1:p.Trp1001Cys | |
| NM_172057.2:c.1983G>C , LRG_288t3:c.1983G>C | NP_742054.1:p.Trp661Cys | |
| XM_011516185.1:c.2703G>C | XP_011514487.1:p.Trp901Cys | |
| XM_011516186.1:c.*83G>C | XP_011514488.1:n.*83G>C | |
| XM_011516185.2:c.2703G>C | XP_011514487.1:p.Trp901Cys | |
| XM_011516186.3:c.*83G>C | XP_011514488.1:n.*83G>C | |
| XM_017012195.1:c.2853G>C | XP_016867684.1:p.Trp951Cys | |
| XM_017012196.1:c.2826G>C | XP_016867685.1:p.Trp942Cys | |
| NM_000238.4:c.3003G>C MANE Select | NP_000229.1:p.Trp1001Cys | |
| NM_172057.3:c.1983G>C | NP_742054.1:p.Trp661Cys |