Revel Score:
ENST00000313766 (MANE Select)
0.537
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.208909G>T , CM000669.2:g.208909G>T | GRCh38 |
| NC_000007.13:g.208909G>T , CM000669.1:g.208909G>T | GRCh37 |
| NC_000007.12:g.303992G>T | NCBI36 |
| NG_033970.1:g.20941G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.796G>T MANE Select | ENSP00000322323.5:p.Gly266Trp | |
| ENST00000313766.5:c.796G>T | ENSP00000322323.5:p.Gly266Trp | |
| ENST00000477004.1:n.277G>T | ||
| NM_020223.3:c.796G>T | NP_064608.2:p.Gly266Trp | |
| XR_242097.3:n.1010+13177G>T | ||
| XM_017012450.1:c.1057G>T | XP_016867939.1:p.Gly353Trp | |
| XM_017012451.1:c.1054G>T | XP_016867940.1:p.Gly352Trp | |
| XM_017012452.1:c.1057G>T | XP_016867941.1:p.Gly353Trp | |
| XM_017012453.1:c.1057G>T | XP_016867942.1:p.Gly353Trp | |
| XM_017012455.2:c.94G>T | XP_016867944.1:p.Gly32Trp | |
| XR_001744837.1:n.1010+13177G>T | ||
| NM_020223.4:c.796G>T MANE Select | NP_064608.2:p.Gly266Trp |