Revel Score:
ENST00000310926 (MANE Select)
0.230
ENST00000493729
0.230
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133973807T>C , CM000665.2:g.133973807T>C | GRCh38 |
| NC_000003.11:g.133692651T>C , CM000665.1:g.133692651T>C | GRCh37 |
| NC_000003.10:g.135175341T>C | NCBI36 |
| NG_031964.2:g.83378A>G | |
| NG_031964.3:g.83378A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310926.11:c.253A>G MANE Select | ENSP00000311291.4:p.Ile85Val | |
| ENST00000310926.8:c.253A>G | ENSP00000311291.4:p.Ile85Val | |
| ENST00000462770.5:n.376A>G | ||
| ENST00000464676.5:n.515A>G | ||
| ENST00000478651.1:n.376A>G | ||
| ENST00000481359.3:c.253A>G | ENSP00000420028.3:p.Ile85Val | |
| ENST00000493729.5:c.253A>G | ENSP00000418893.1:p.Ile85Val | |
| NM_005630.2:c.253A>G | NP_005621.2:p.Ile85Val | |
| XM_011513090.1:c.253A>G | XP_011511392.1:p.Ile85Val | |
| XM_017007077.1:c.-252A>G | XP_016862566.1:n.-252A>G | |
| XM_024453721.1:c.253A>G | XP_024309489.1:p.Ile85Val | |
| NM_005630.3:c.253A>G MANE Select | NP_005621.2:p.Ile85Val |