Revel Score:
ENST00000295897 (MANE Select)
0.510
ENST00000415165
0.510
ENST00000503124
0.510
ENST00000509063
0.510
ENST00000401494
0.510
ENST00000430202
0.510
gnomAD v4:
Joint Max Group AF
0.00024073 (EAS)
Exomes Max Group AF
0.00027266 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413454A>G , CM000666.2:g.73413454A>G | GRCh38 |
| NC_000004.11:g.74279171A>G , CM000666.1:g.74279171A>G | GRCh37 |
| NC_000004.10:g.74498035A>G | NCBI36 |
| NG_009291.1:g.14200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.878A>G MANE Select | ENSP00000295897.4:p.Asp293Gly | |
| ENST00000295897.8:c.878A>G | ENSP00000295897.4:p.Asp293Gly | |
| ENST00000401494.7:c.533A>G | ENSP00000384695.3:p.Asp178Gly | |
| ENST00000415165.6:c.302A>G | ENSP00000401820.2:p.Asp101Gly | |
| ENST00000476441.6:c.*157A>G | ENSP00000423727.1:n.*157A>G | |
| ENST00000484992.1:n.198A>G | ||
| ENST00000503124.5:c.428A>G | ENSP00000421027.1:p.Asp143Gly | |
| ENST00000505649.5:n.564A>G | ||
| ENST00000509063.5:c.878A>G | ENSP00000422784.1:p.Asp293Gly | |
| ENST00000511370.1:c.411A>G | ||
| ENST00000621085.4:c.491-1652A>G | ENSP00000483421.1:n.491-1652A>G | |
| ENST00000621628.4:c.487-1648A>G | ENSP00000480485.1:n.487-1648A>G | |
| NM_000477.5:c.878A>G | NP_000468.1:p.Asp293Gly | |
| NM_000477.6:c.878A>G | NP_000468.1:p.Asp293Gly | |
| NM_000477.7:c.878A>G MANE Select | NP_000468.1:p.Asp293Gly |