Revel Score:
ENST00000443617 (MANE Select)
0.056
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63645010C>A , CM000677.2:g.63645010C>A | GRCh38 |
| NC_000015.9:g.63937209C>A , CM000677.1:g.63937209C>A | GRCh37 |
| NC_000015.8:g.61724262C>A | NCBI36 |
| NG_046958.1:g.193940G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443617.7:c.11166G>T MANE Select | ENSP00000390158.2:p.Glu3722Asp | |
| ENST00000443617.6:c.11166G>T | ENSP00000390158.2:p.Glu3722Asp | |
| NM_003922.3:c.11166G>T | NP_003913.3:p.Glu3722Asp | |
| XM_011522138.1:c.11244G>T | XP_011520440.1:p.Glu3748Asp | |
| XM_011522139.1:c.11244G>T | XP_011520441.1:p.Glu3748Asp | |
| XM_011522140.1:c.11244G>T | XP_011520442.1:p.Glu3748Asp | |
| XM_011522141.1:c.11241G>T | XP_011520443.1:p.Glu3747Asp | |
| XM_011522142.1:c.11241G>T | XP_011520444.1:p.Glu3747Asp | |
| XM_011522143.1:c.11241G>T | XP_011520445.1:p.Glu3747Asp | |
| XM_011522144.1:c.11223G>T | XP_011520446.1:p.Glu3741Asp | |
| XM_011522145.1:c.11220G>T | XP_011520447.1:p.Glu3740Asp | |
| XM_011522146.1:c.11217G>T | XP_011520448.1:p.Glu3739Asp | |
| XM_011522147.1:c.11193G>T | XP_011520449.1:p.Glu3731Asp | |
| XM_011522148.1:c.11244G>T | XP_011520450.1:p.Glu3748Asp | |
| XM_011522149.1:c.11244G>T | XP_011520451.1:p.Glu3748Asp | |
| XM_011522150.1:c.11244G>T | XP_011520452.1:p.Glu3748Asp | |
| XR_931932.1:n.11389G>T | ||
| XR_931933.1:n.11389G>T | ||
| XR_931934.1:n.11389G>T | ||
| XR_931935.1:n.11389G>T | ||
| XM_017022699.2:c.11310G>T | XP_016878188.1:p.Glu3770Asp | |
| XM_017022700.2:c.11274G>T | XP_016878189.1:p.Glu3758Asp | |
| XM_017022701.2:c.11259G>T | XP_016878190.1:p.Glu3753Asp | |
| XM_017022702.2:c.11259G>T | XP_016878191.1:p.Glu3753Asp | |
| XM_017022703.2:c.11256G>T | XP_016878192.1:p.Glu3752Asp | |
| XM_017022704.2:c.11238G>T | XP_016878193.1:p.Glu3746Asp | |
| XM_017022705.2:c.11232G>T | XP_016878194.1:p.Glu3744Asp | |
| NM_003922.4:c.11166G>T MANE Select | NP_003913.3:p.Glu3722Asp |