Revel Score:
ENST00000302922
0.156
ENST00000382103 (MANE Select)
0.156
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25123971T>C , CM000666.2:g.25123971T>C | GRCh38 |
| NC_000004.11:g.25125593T>C , CM000666.1:g.25125593T>C | GRCh37 |
| NC_000004.10:g.24734691T>C | NCBI36 |
| NG_028222.1:g.41612A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1466A>G MANE Select | ENSP00000371535.2:p.Asp489Gly | |
| ENST00000680581.1:c.*340A>G | ENSP00000506483.1:n.*340A>G | |
| ENST00000680824.1:n.2682A>G | ||
| ENST00000681071.1:n.1758A>G | ||
| ENST00000681341.1:n.2513A>G | ||
| ENST00000681374.1:n.822A>G | ||
| ENST00000681948.1:c.1721A>G | ENSP00000505991.1:p.Asp574Gly | |
| ENST00000358971.7:c.*1264A>G | ENSP00000351857.3:n.*1264A>G | |
| ENST00000382103.6:c.1466A>G | ENSP00000371535.2:p.Asp489Gly | |
| ENST00000514585.5:c.*1167A>G | ENSP00000421880.1:n.*1167A>G | |
| NM_016955.3:c.1466A>G | NP_058651.3:p.Asp489Gly | |
| XM_005248168.2:c.1229A>G | XP_005248225.1:p.Asp410Gly | |
| XM_006713965.2:c.1286A>G | XP_006714028.1:p.Asp429Gly | |
| XM_011513846.1:c.1463A>G | XP_011512148.1:p.Asp488Gly | |
| XM_011513847.1:c.1433A>G | XP_011512149.1:p.Asp478Gly | |
| XM_011513848.1:c.1286A>G | XP_011512150.1:p.Asp429Gly | |
| XM_011513846.2:c.1463A>G | XP_011512148.1:p.Asp488Gly | |
| XM_011513847.2:c.1433A>G | XP_011512149.1:p.Asp478Gly | |
| XM_017008277.1:c.1721A>G | XP_016863766.1:p.Asp574Gly | |
| XM_017008278.1:c.1043A>G | XP_016863767.1:p.Asp348Gly | |
| NM_016955.4:c.1466A>G MANE Select | NP_058651.3:p.Asp489Gly |