Revel Score:
ENST00000310926 (MANE Select)
0.699
ENST00000493729
0.699
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133953723C>T , CM000665.2:g.133953723C>T | GRCh38 |
| NC_000003.11:g.133672567C>T , CM000665.1:g.133672567C>T | GRCh37 |
| NC_000003.10:g.135155257C>T | NCBI36 |
| NG_031964.2:g.103462G>A | |
| NG_031964.3:g.103462G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310926.11:c.664G>A MANE Select | ENSP00000311291.4:p.Gly222Arg | |
| ENST00000310926.8:c.664G>A | ENSP00000311291.4:p.Gly222Arg | |
| ENST00000462770.5:n.521-5023G>A | ||
| ENST00000464676.5:n.926G>A | ||
| ENST00000481359.3:c.664G>A | ENSP00000420028.3:p.Gly222Arg | |
| ENST00000493729.5:c.436G>A | ENSP00000418893.1:p.Gly146Arg | |
| NM_005630.2:c.664G>A | NP_005621.2:p.Gly222Arg | |
| XM_011513090.1:c.664G>A | XP_011511392.1:p.Gly222Arg | |
| XM_017007077.1:c.160G>A | XP_016862566.1:p.Gly54Arg | |
| XM_024453721.1:c.664G>A | XP_024309489.1:p.Gly222Arg | |
| NM_005630.3:c.664G>A MANE Select | NP_005621.2:p.Gly222Arg |