Revel Score:
ENST00000376670 (MANE Select)
0.402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48793916G>T , CM000685.2:g.48793916G>T | GRCh38 |
| NC_000023.10:g.48652323G>T , CM000685.1:g.48652323G>T | GRCh37 |
| NC_000023.9:g.48537267G>T | NCBI36 |
| NG_008846.2:g.12343G>T , LRG_559:g.12343G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.745G>T | ENSP00000498550.1:p.Gly249Cys | |
| ENST00000696450.1:c.1009G>T | ENSP00000512637.1:p.Gly337Cys | |
| ENST00000696451.1:c.760G>T | ENSP00000512638.1:p.Gly254Cys | |
| ENST00000696452.1:c.784G>T | ENSP00000512639.1:p.Gly262Cys | |
| ENST00000376670.9:c.994G>T MANE Select | ENSP00000365858.3:p.Gly332Cys | |
| ENST00000651144.1:c.745G>T | ENSP00000498550.1:p.Gly249Cys | |
| ENST00000376665.4:c.871-218G>T | ENSP00000365853.3:n.871-218G>T | |
| ENST00000376670.7:c.994G>T | ENSP00000365858.3:p.Gly332Cys | |
| NM_002049.3:c.994G>T , LRG_559t1:c.994G>T | NP_002040.1:p.Gly332Cys | |
| XM_011543897.1:c.1009G>T | XP_011542199.1:p.Gly337Cys | |
| XM_011543898.1:c.760G>T | XP_011542200.1:p.Gly254Cys | |
| XM_011543897.2:c.1009G>T | XP_011542199.1:p.Gly337Cys | |
| XM_011543898.2:c.760G>T | XP_011542200.1:p.Gly254Cys | |
| XM_024452363.1:c.745G>T | XP_024308131.1:p.Gly249Cys | |
| NM_002049.4:c.994G>T MANE Select | NP_002040.1:p.Gly332Cys |