Revel Score:
ENST00000348749 (MANE Select)
0.953
ENST00000261007
0.953
ENST00000409542
0.953
ENST00000409219
0.953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174748177C>G , CM000664.2:g.174748177C>G | GRCh38 |
| NC_000002.11:g.175612905C>G , CM000664.1:g.175612905C>G | GRCh37 |
| NC_000002.10:g.175321151C>G | NCBI36 |
| NG_008172.1:g.21296G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.832G>C | ENSP00000490338.2:p.Gly278Arg | |
| ENST00000672640.1:c.832G>C | ENSP00000500507.1:p.Gly278Arg | |
| ENST00000261007.9:c.1396G>C | ENSP00000261007.5:p.Gly466Arg | |
| ENST00000348749.9:c.1321G>C MANE Select | ENSP00000261008.5:p.Gly441Arg | |
| ENST00000409219.5:c.1081G>C | ENSP00000386611.1:p.Gly361Arg | |
| ENST00000409542.5:c.1075G>C | ENSP00000387026.1:p.Gly359Arg | |
| ENST00000435083.5:c.*965G>C | ENSP00000395805.1:n.*965G>C | |
| NM_000079.3:c.1321G>C | NP_000070.1:p.Gly441Arg | |
| NM_001039523.2:c.1396G>C | NP_001034612.1:p.Gly466Arg | |
| XM_017003256.1:c.1417G>C | XP_016858745.1:p.Gly473Arg | |
| XM_017003257.1:c.1342G>C | XP_016858746.1:p.Gly448Arg | |
| NM_000079.4:c.1321G>C MANE Select | NP_000070.1:p.Gly441Arg | |
| NM_001039523.3:c.1396G>C | NP_001034612.1:p.Gly466Arg |