Revel Score:
ENST00000397752 (MANE Select)
0.448
ENST00000318493
0.448
ENST00000454623
0.448
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116774890C>G , CM000669.2:g.116774890C>G | GRCh38 |
| NC_000007.13:g.116414944C>G , CM000669.1:g.116414944C>G | GRCh37 |
| NC_000007.12:g.116202180C>G | NCBI36 |
| NG_008996.1:g.107486C>G , LRG_662:g.107486C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*643C>G | ENSP00000410980.2:n.*643C>G | |
| ENST00000318493.11:c.3092C>G | ENSP00000317272.6:p.Pro1031Arg | |
| ENST00000397752.8:c.3038C>G MANE Select | ENSP00000380860.3:p.Pro1013Arg | |
| ENST00000318493.10:c.3092C>G | ENSP00000317272.6:p.Pro1031Arg | |
| ENST00000397752.7:c.3038C>G | ENSP00000380860.3:p.Pro1013Arg | |
| ENST00000454623.1:c.293C>G | ENSP00000398140.1:p.Pro98Arg | |
| NM_000245.2:c.3038C>G | NP_000236.2:p.Pro1013Arg | |
| NM_001127500.1:c.3092C>G , LRG_662t1:c.3092C>G | NP_001120972.1:p.Pro1031Arg | |
| XM_006715990.2:c.1748C>G | XP_006716053.1:p.Pro583Arg | |
| XM_006715991.2:c.1748C>G | XP_006716054.1:p.Pro583Arg | |
| XM_011516223.1:c.3095C>G | XP_011514525.1:p.Pro1032Arg | |
| NM_000245.3:c.3038C>G | NP_000236.2:p.Pro1013Arg | |
| NM_001127500.2:c.3092C>G | NP_001120972.1:p.Pro1031Arg | |
| NM_001324402.1:c.1748C>G | NP_001311331.1:p.Pro583Arg | |
| XR_001744772.1:n.3169C>G | ||
| NM_001127500.3:c.3092C>G | NP_001120972.1:p.Pro1031Arg | |
| NM_000245.4:c.3038C>G MANE Select | NP_000236.2:p.Pro1013Arg | |
| NM_001324402.2:c.1748C>G | NP_001311331.1:p.Pro583Arg |