Revel Score:
ENST00000370096 (MANE Select)
0.998
ENST00000358392
0.998
ENST00000353414
0.998
ENST00000370090
0.998
ENST00000512756
0.998
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102888730C>A , CM000663.2:g.102888730C>A | GRCh38 |
| NC_000001.10:g.103354286C>A , CM000663.1:g.103354286C>A | GRCh37 |
| NC_000001.9:g.103126874C>A | NCBI36 |
| NG_008033.1:g.224767G>T | |
| NG_008033.2:g.224767G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4547G>T MANE Select | ENSP00000359114.3:p.Gly1516Val | |
| ENST00000353414.8:c.4430G>T | ENSP00000302551.6:p.Gly1477Val | |
| ENST00000358392.6:c.4583G>T | ENSP00000351163.2:p.Gly1528Val | |
| ENST00000370096.7:c.4547G>T | ENSP00000359114.3:p.Gly1516Val | |
| ENST00000512756.5:c.4199G>T | ENSP00000426533.1:p.Gly1400Val | |
| ENST00000635193.1:c.3881G>T | ||
| NM_001190709.1:c.4430G>T | NP_001177638.1:p.Gly1477Val | |
| NM_001854.3:c.4547G>T | NP_001845.3:p.Gly1516Val | |
| NM_080629.2:c.4583G>T | NP_542196.2:p.Gly1528Val | |
| NM_080630.3:c.4199G>T | NP_542197.3:p.Gly1400Val | |
| XM_011540720.1:c.2780G>T | XP_011539022.1:p.Gly927Val | |
| XM_011540721.1:c.2135G>T | XP_011539023.1:p.Gly712Val | |
| NR_134980.1:n.4881G>T | ||
| XM_017000334.1:c.4700G>T | XP_016855823.1:p.Gly1567Val | |
| XM_017000335.1:c.4694G>T | XP_016855824.1:p.Gly1565Val | |
| XM_017000337.1:c.3098G>T | XP_016855826.1:p.Gly1033Val | |
| NM_001854.4:c.4547G>T MANE Select | NP_001845.3:p.Gly1516Val | |
| NM_080630.4:c.4199G>T | NP_542197.3:p.Gly1400Val | |
| NR_134980.2:n.4907G>T | ||
| NM_001190709.2:c.4430G>T | NP_001177638.1:p.Gly1477Val | |
| NM_080629.3:c.4583G>T | NP_542196.2:p.Gly1528Val |