Revel Score:
ENST00000367975 (MANE Select)
0.955
ENST00000342751
0.955
ENST00000432287
0.955
ENST00000392169
0.955
ENST00000513009
0.955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161340638G>T , CM000663.2:g.161340638G>T | GRCh38 |
| NC_000001.10:g.161310428G>T , CM000663.1:g.161310428G>T | GRCh37 |
| NC_000001.9:g.159577052G>T | NCBI36 |
| NG_012767.1:g.31263G>T , LRG_317:g.31263G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*225G>T | ENSP00000482902.2:n.*225G>T | |
| ENST00000367975.7:c.224G>T MANE Select | ENSP00000356953.3:p.Gly75Val | |
| ENST00000342751.8:c.224G>T | ENSP00000356952.3:p.Gly75Val | |
| ENST00000367975.6:c.224G>T | ENSP00000356953.2:p.Gly75Val | |
| ENST00000392169.6:c.65G>T | ENSP00000376009.2:p.Gly22Val | |
| ENST00000432287.6:c.122G>T | ENSP00000390558.2:p.Gly41Val | |
| ENST00000470743.4:c.322G>T | ||
| ENST00000504963.5:c.*47G>T | ENSP00000423929.1:n.*47G>T | |
| ENST00000513009.5:c.122G>T | ENSP00000423260.1:p.Gly41Val | |
| NM_001035511.1:c.224G>T | NP_001030588.1:p.Gly75Val | |
| NM_001035512.1:c.122G>T | NP_001030589.1:p.Gly41Val | |
| NM_001035513.1:c.65G>T | NP_001030590.1:p.Gly22Val | |
| NM_001278172.1:c.122G>T | NP_001265101.1:p.Gly41Val | |
| NM_003001.3:c.224G>T , LRG_317t1:c.224G>T | NP_002992.1:p.Gly75Val | |
| NR_103459.1:n.281G>T | ||
| NM_001035511.2:c.224G>T | NP_001030588.1:p.Gly75Val | |
| NM_001035512.2:c.122G>T | NP_001030589.1:p.Gly41Val | |
| NM_001035513.2:c.65G>T | NP_001030590.1:p.Gly22Val | |
| NM_001278172.2:c.122G>T | NP_001265101.1:p.Gly41Val | |
| NM_003001.5:c.224G>T MANE Select | NP_002992.1:p.Gly75Val | |
| NR_103459.2:n.276G>T |