Revel Score:
ENST00000376215 (MANE Select)
0.760
ENST00000396343
0.760
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26735477T>A , CM000672.2:g.26735477T>A | GRCh38 |
| NC_000010.10:g.27024406T>A , CM000672.1:g.27024406T>A | GRCh37 |
| NC_000010.9:g.27064412T>A | NCBI36 |
| NG_008972.1:g.42812T>A | |
| NG_008972.2:g.42812T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.924T>A MANE Select | ENSP00000365388.5:p.Asp308Glu | |
| ENST00000376215.9:c.924T>A | ENSP00000365388.5:p.Asp308Glu | |
| ENST00000470978.1:n.166T>A | ||
| ENST00000491711.5:c.332T>A | ||
| NM_014317.3:c.924T>A | NP_055132.2:p.Asp308Glu | |
| XM_005252439.2:c.414T>A | XP_005252496.1:p.Asp138Glu | |
| XM_011519437.1:c.555T>A | XP_011517739.1:p.Asp185Glu | |
| XR_428636.2:n.1216T>A | ||
| XR_930486.1:n.1212T>A | ||
| NM_001321978.1:c.836-7020T>A | NP_001308907.1:n.836-7020T>A | |
| NM_001321979.1:c.414T>A | NP_001308908.1:p.Asp138Glu | |
| NM_014317.4:c.924T>A | NP_055132.2:p.Asp308Glu | |
| XM_011519437.3:c.555T>A | XP_011517739.1:p.Asp185Glu | |
| XM_017016011.2:c.603T>A | XP_016871500.1:p.Asp201Glu | |
| XM_024447922.1:c.924T>A | XP_024303690.1:p.Asp308Glu | |
| XM_024447923.1:c.414T>A | XP_024303691.1:p.Asp138Glu | |
| XR_428636.4:n.1216T>A | ||
| NM_014317.5:c.924T>A MANE Select | NP_055132.2:p.Asp308Glu | |
| NM_001321978.2:c.836-7020T>A | NP_001308907.1:n.836-7020T>A | |
| NM_001321979.2:c.414T>A | NP_001308908.1:p.Asp138Glu |