Revel Score:
ENST00000330883
0.915
ENST00000392968
0.915
ENST00000262186 (MANE Select)
0.915
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948984C>T , CM000669.2:g.150948984C>T | GRCh38 |
| NC_000007.13:g.150646072C>T , CM000669.1:g.150646072C>T | GRCh37 |
| NC_000007.12:g.150277005C>T | NCBI36 |
| NG_008916.1:g.33943G>A , LRG_288:g.33943G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3297G>A | ||
| ENST00000262186.10:c.2464G>A MANE Select | ENSP00000262186.5:p.Val822Met | |
| ENST00000330883.9:c.1444G>A | ENSP00000328531.4:p.Val482Met | |
| ENST00000262186.9:c.2464G>A | ENSP00000262186.5:p.Val822Met | |
| ENST00000330883.8:c.1444G>A | ENSP00000328531.4:p.Val482Met | |
| NM_000238.3:c.2464G>A , LRG_288t1:c.2464G>A | NP_000229.1:p.Val822Met | |
| NM_172057.2:c.1444G>A , LRG_288t3:c.1444G>A | NP_742054.1:p.Val482Met | |
| XM_011516185.1:c.2164G>A | XP_011514487.1:p.Val722Met | |
| XM_011516186.1:c.2464G>A | XP_011514488.1:p.Val822Met | |
| XM_011516185.2:c.2164G>A | XP_011514487.1:p.Val722Met | |
| XM_011516186.3:c.2464G>A | XP_011514488.1:p.Val822Met | |
| XM_017012195.1:c.2314G>A | XP_016867684.1:p.Val772Met | |
| XM_017012196.1:c.2287G>A | XP_016867685.1:p.Val763Met | |
| NM_000238.4:c.2464G>A MANE Select | NP_000229.1:p.Val822Met | |
| NM_172057.3:c.1444G>A | NP_742054.1:p.Val482Met |