Revel Score:
ENST00000302118 (MANE Select)
0.920
ENST00000543384
0.920
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55057454G>T , CM000663.2:g.55057454G>T | GRCh38 |
| NC_000001.10:g.55523127G>T , CM000663.1:g.55523127G>T | GRCh37 |
| NC_000001.9:g.55295715G>T | NCBI36 |
| NG_009061.1:g.22908G>T , LRG_275:g.22908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1120G>T | ENSP00000501161.2:p.Asp374Tyr | |
| ENST00000710286.1:c.1477G>T | ENSP00000518176.1:p.Asp493Tyr | |
| ENST00000673903.1:c.745G>T | ENSP00000501257.1:p.Asp249Tyr | |
| ENST00000302118.5:c.1120G>T MANE Select | ENSP00000303208.5:p.Asp374Tyr | |
| ENST00000490692.1:n.1844G>T | ||
| NM_174936.3:c.1120G>T , LRG_275t1:c.1120G>T | NP_777596.2:p.Asp374Tyr | |
| NR_110451.1:n.779G>T | ||
| XM_011541193.1:c.241G>T | XP_011539495.1:p.Asp81Tyr | |
| NM_174936.4:c.1120G>T MANE Select | NP_777596.2:p.Asp374Tyr | |
| NR_110451.2:n.779G>T |