Revel Score:
ENST00000397752 (MANE Select)
0.386
ENST00000318493
0.386
ENST00000454623
0.386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116775033G>A , CM000669.2:g.116775033G>A | GRCh38 |
| NC_000007.13:g.116415087G>A , CM000669.1:g.116415087G>A | GRCh37 |
| NC_000007.12:g.116202323G>A | NCBI36 |
| NG_008996.1:g.107629G>A , LRG_662:g.107629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*786G>A | ENSP00000410980.2:n.*786G>A | |
| ENST00000318493.11:c.3235G>A | ENSP00000317272.6:p.Glu1079Lys | |
| ENST00000397752.8:c.3181G>A MANE Select | ENSP00000380860.3:p.Glu1061Lys | |
| ENST00000318493.10:c.3235G>A | ENSP00000317272.6:p.Glu1079Lys | |
| ENST00000397752.7:c.3181G>A | ENSP00000380860.3:p.Glu1061Lys | |
| ENST00000454623.1:c.436G>A | ENSP00000398140.1:p.Glu146Lys | |
| NM_000245.2:c.3181G>A | NP_000236.2:p.Glu1061Lys | |
| NM_001127500.1:c.3235G>A , LRG_662t1:c.3235G>A | NP_001120972.1:p.Glu1079Lys | |
| XM_006715990.2:c.1891G>A | XP_006716053.1:p.Glu631Lys | |
| XM_006715991.2:c.1891G>A | XP_006716054.1:p.Glu631Lys | |
| XM_011516223.1:c.3238G>A | XP_011514525.1:p.Glu1080Lys | |
| NM_000245.3:c.3181G>A | NP_000236.2:p.Glu1061Lys | |
| NM_001127500.2:c.3235G>A | NP_001120972.1:p.Glu1079Lys | |
| NM_001324402.1:c.1891G>A | NP_001311331.1:p.Glu631Lys | |
| XR_001744772.1:n.3312G>A | ||
| NM_001127500.3:c.3235G>A | NP_001120972.1:p.Glu1079Lys | |
| NM_000245.4:c.3181G>A MANE Select | NP_000236.2:p.Glu1061Lys | |
| NM_001324402.2:c.1891G>A | NP_001311331.1:p.Glu631Lys |