Revel Score:
ENST00000418703
0.827
ENST00000261740 (MANE Select)
0.827
ENST00000392719
0.827
ENST00000346520
0.827
ENST00000544971
0.827
ENST00000537083
0.827
ENST00000541794
0.827
ENST00000536838
0.827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109786716C>T , CM000674.2:g.109786716C>T | GRCh38 |
| NC_000012.11:g.110224521C>T , CM000674.1:g.110224521C>T | GRCh37 |
| NC_000012.10:g.108708904C>T | NCBI36 |
| NG_017090.1:g.51692G>A , LRG_372:g.51692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2330G>A MANE Select | ENSP00000261740.2:p.Cys777Tyr | |
| ENST00000418703.7:c.2330G>A | ENSP00000406191.2:p.Cys777Tyr | |
| ENST00000674908.1:c.*1417G>A | ENSP00000502012.1:n.*1417G>A | |
| ENST00000675670.1:c.2330G>A | ENSP00000502135.1:p.Cys777Tyr | |
| ENST00000261740.6:c.2330G>A | ENSP00000261740.2:p.Cys777Tyr | |
| ENST00000418703.6:c.2330G>A | ENSP00000406191.2:p.Cys777Tyr | |
| ENST00000536838.1:c.2228G>A | ENSP00000444336.1:p.Cys743Tyr | |
| ENST00000537083.5:c.2150G>A | ENSP00000442738.1:p.Cys717Tyr | |
| ENST00000538125.5:c.*713G>A | ENSP00000437449.1:n.*713G>A | |
| ENST00000541794.5:c.2189G>A | ENSP00000442167.1:p.Cys730Tyr | |
| ENST00000544971.5:c.2009G>A | ENSP00000443611.1:p.Cys670Tyr | |
| NM_001177428.1:c.2189G>A | NP_001170899.1:p.Cys730Tyr | |
| NM_001177431.1:c.2228G>A | NP_001170902.1:p.Cys743Tyr | |
| NM_001177433.1:c.2009G>A | NP_001170904.1:p.Cys670Tyr | |
| NM_021625.4:c.2330G>A , LRG_372t1:c.2330G>A | NP_067638.3:p.Cys777Tyr | |
| NM_147204.2:c.2150G>A | NP_671737.1:p.Cys717Tyr | |
| XM_005253918.1:c.2330G>A | XP_005253975.1:p.Cys777Tyr | |
| XM_011538630.1:c.2330G>A | XP_011536932.1:p.Cys777Tyr | |
| XM_011538631.1:c.2189G>A | XP_011536933.1:p.Cys730Tyr | |
| XM_011538632.1:c.2150G>A | XP_011536934.1:p.Cys717Tyr | |
| XM_011538633.1:c.2009G>A | XP_011536935.1:p.Cys670Tyr | |
| XM_011538630.2:c.2483G>A | XP_011536932.2:p.Cys828Tyr | |
| XM_011538631.2:c.2342G>A | XP_011536933.2:p.Cys781Tyr | |
| XM_011538632.2:c.2303G>A | XP_011536934.2:p.Cys768Tyr | |
| XM_011538633.2:c.2162G>A | XP_011536935.2:p.Cys721Tyr | |
| XM_017019774.1:c.2330G>A | XP_016875263.1:p.Cys777Tyr | |
| NM_021625.5:c.2330G>A MANE Select | NP_067638.3:p.Cys777Tyr |