Revel Score:
ENST00000304743 (MANE Select)
0.145
ENST00000238570
0.145
ENST00000439984
0.145
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022113 (AFR)
Genomes Max Group AF
0.00024176 (AFR)
Exomes Max Group AF
0.00011931 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.71009651C>G , CM000676.2:g.71009651C>G | GRCh38 |
| NC_000014.8:g.71476368C>G , CM000676.1:g.71476368C>G | GRCh37 |
| NC_000014.7:g.70546121C>G | NCBI36 |
| NG_051070.1:g.107247C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304743.7:c.2647C>G MANE Select | ENSP00000304192.2:p.Leu883Val | |
| ENST00000304743.6:c.2647C>G | ENSP00000304192.2:p.Leu883Val | |
| ENST00000439984.7:c.2329C>G | ENSP00000396617.3:p.Leu777Val | |
| ENST00000554879.5:n.3011C>G | ||
| ENST00000556846.1:n.289C>G | ||
| NM_001308160.1:c.2329C>G | NP_001295089.1:p.Leu777Val | |
| NM_014982.2:c.2647C>G | NP_055797.2:p.Leu883Val | |
| XM_005267420.3:c.2647C>G | XP_005267477.1:p.Leu883Val | |
| XM_005267421.3:c.2644C>G | XP_005267478.1:p.Leu882Val | |
| XM_005267422.3:c.2647C>G | XP_005267479.1:p.Leu883Val | |
| XM_005267423.3:c.2647C>G | XP_005267480.1:p.Leu883Val | |
| XM_005267424.2:c.2536C>G | XP_005267481.2:p.Leu846Val | |
| XM_005267425.3:c.2329C>G | XP_005267482.1:p.Leu777Val | |
| XM_005267427.3:c.2647C>G | XP_005267484.1:p.Leu883Val | |
| XM_005267428.2:c.-24C>G | XP_005267485.1:n.-24C>G | |
| XM_005267429.2:c.10-3349C>G | XP_005267486.1:n.10-3349C>G | |
| XM_006720082.2:c.16-3349C>G | XP_006720145.1:n.16-3349C>G | |
| XR_245672.3:n.3022C>G | ||
| XR_245673.3:n.3022C>G | ||
| XR_943402.1:n.3022C>G | ||
| XM_005267420.4:c.2647C>G | XP_005267477.1:p.Leu883Val | |
| XM_005267421.4:c.2644C>G | XP_005267478.1:p.Leu882Val | |
| XM_005267422.4:c.2647C>G | XP_005267479.1:p.Leu883Val | |
| XM_005267423.4:c.2647C>G | XP_005267480.1:p.Leu883Val | |
| XM_005267424.3:c.2536C>G | XP_005267481.2:p.Leu846Val | |
| XM_005267425.4:c.2329C>G | XP_005267482.1:p.Leu777Val | |
| XM_005267427.4:c.2647C>G | XP_005267484.1:p.Leu883Val | |
| XM_006720082.3:c.16-3349C>G | XP_006720145.1:n.16-3349C>G | |
| XM_017021096.1:c.2329C>G | XP_016876585.1:p.Leu777Val | |
| XM_017021097.1:c.10-3349C>G | XP_016876586.1:n.10-3349C>G | |
| XM_024449513.1:c.-24C>G | XP_024305281.1:n.-24C>G | |
| XR_245672.4:n.3055C>G | ||
| XR_245673.4:n.3055C>G | ||
| NM_001308160.2:c.2329C>G | NP_001295089.1:p.Leu777Val | |
| NM_014982.3:c.2647C>G MANE Select | NP_055797.2:p.Leu883Val |