Revel Score:
ENST00000313766 (MANE Select)
0.421
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.208909G>A , CM000669.2:g.208909G>A | GRCh38 |
| NC_000007.13:g.208909G>A , CM000669.1:g.208909G>A | GRCh37 |
| NC_000007.12:g.303992G>A | NCBI36 |
| NG_033970.1:g.20941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.796G>A MANE Select | ENSP00000322323.5:p.Gly266Arg | |
| ENST00000313766.5:c.796G>A | ENSP00000322323.5:p.Gly266Arg | |
| ENST00000477004.1:n.277G>A | ||
| NM_020223.3:c.796G>A | NP_064608.2:p.Gly266Arg | |
| XR_242097.3:n.1010+13177G>A | ||
| XM_017012450.1:c.1057G>A | XP_016867939.1:p.Gly353Arg | |
| XM_017012451.1:c.1054G>A | XP_016867940.1:p.Gly352Arg | |
| XM_017012452.1:c.1057G>A | XP_016867941.1:p.Gly353Arg | |
| XM_017012453.1:c.1057G>A | XP_016867942.1:p.Gly353Arg | |
| XM_017012455.2:c.94G>A | XP_016867944.1:p.Gly32Arg | |
| XR_001744837.1:n.1010+13177G>A | ||
| NM_020223.4:c.796G>A MANE Select | NP_064608.2:p.Gly266Arg |