Revel Score:
ENST00000371734
0.683
ENST00000371732 (MANE Select)
0.683
ENST00000315908
0.683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136371432C>A , CM000671.2:g.136371432C>A | GRCh38 |
| NC_000009.11:g.139265884C>A , CM000671.1:g.139265884C>A | GRCh37 |
| NC_000009.10:g.138385705C>A | NCBI36 |
| NG_021197.1:g.7250G>T , LRG_178:g.7250G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641290.2:n.219G>T | ||
| ENST00000695905.1:n.342G>T | ||
| ENST00000695906.1:n.342G>T | ||
| ENST00000695908.1:n.333G>T | ||
| ENST00000696169.1:c.214G>T | ENSP00000512460.1:p.Gly72Cys | |
| ENST00000371732.10:c.214G>T MANE Select | ENSP00000360797.5:p.Gly72Cys | |
| ENST00000641290.1:c.-99G>T | ENSP00000493113.1:n.-99G>T | |
| ENST00000371732.9:c.214G>T | ENSP00000360797.5:p.Gly72Cys | |
| ENST00000371734.7:c.214G>T | ENSP00000360799.3:p.Gly72Cys | |
| ENST00000481053.5:n.343G>T | ||
| ENST00000489932.2:c.214G>T | ENSP00000451368.1:p.Gly72Cys | |
| ENST00000556340.1:n.345G>T | ||
| NM_052813.4:c.214G>T , LRG_178t1:c.214G>T | NP_434700.2:p.Gly72Cys | |
| NM_052814.3:c.214G>T | NP_434701.1:p.Gly72Cys | |
| NM_052813.5:c.214G>T MANE Select | NP_434700.2:p.Gly72Cys | |
| NM_052814.4:c.214G>T | NP_434701.1:p.Gly72Cys |