Revel Score:
ENST00000397752 (MANE Select)
0.629
ENST00000318493
0.629
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116777403G>T , CM000669.2:g.116777403G>T | GRCh38 |
| NC_000007.13:g.116417457G>T , CM000669.1:g.116417457G>T | GRCh37 |
| NC_000007.12:g.116204693G>T | NCBI36 |
| NG_008996.1:g.109999G>T , LRG_662:g.109999G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*879G>T | ENSP00000410980.2:n.*879G>T | |
| ENST00000318493.11:c.3328G>T | ENSP00000317272.6:p.Val1110Leu | |
| ENST00000397752.8:c.3274G>T MANE Select | ENSP00000380860.3:p.Val1092Leu | |
| ENST00000318493.10:c.3328G>T | ENSP00000317272.6:p.Val1110Leu | |
| ENST00000397752.7:c.3274G>T | ENSP00000380860.3:p.Val1092Leu | |
| NM_000245.2:c.3274G>T | NP_000236.2:p.Val1092Leu | |
| NM_001127500.1:c.3328G>T , LRG_662t1:c.3328G>T | NP_001120972.1:p.Val1110Leu | |
| XM_006715990.2:c.1984G>T | XP_006716053.1:p.Val662Leu | |
| XM_006715991.2:c.1984G>T | XP_006716054.1:p.Val662Leu | |
| XM_011516223.1:c.3331G>T | XP_011514525.1:p.Val1111Leu | |
| NM_000245.3:c.3274G>T | NP_000236.2:p.Val1092Leu | |
| NM_001127500.2:c.3328G>T | NP_001120972.1:p.Val1110Leu | |
| NM_001324402.1:c.1984G>T | NP_001311331.1:p.Val662Leu | |
| XR_001744772.1:n.3405G>T | ||
| NM_001127500.3:c.3328G>T | NP_001120972.1:p.Val1110Leu | |
| NM_000245.4:c.3274G>T MANE Select | NP_000236.2:p.Val1092Leu | |
| NM_001324402.2:c.1984G>T | NP_001311331.1:p.Val662Leu |