Revel Score:
ENST00000320876 (MANE Select)
0.351
ENST00000261598
0.351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2667017G>A , CM000680.2:g.2667017G>A | GRCh38 |
| NC_000018.9:g.2667016G>A , CM000680.1:g.2667016G>A | GRCh37 |
| NC_000018.8:g.2657016G>A | NCBI36 |
| NG_031972.1:g.16131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.567G>A | ||
| ENST00000688342.1:c.410G>A | ENSP00000508422.1:p.Gly137Glu | |
| ENST00000320876.11:c.410G>A MANE Select | ENSP00000326603.7:p.Gly137Glu | |
| ENST00000320876.10:c.410G>A | ENSP00000326603.6:p.Gly137Glu | |
| NM_015295.2:c.410G>A | NP_056110.2:p.Gly137Glu | |
| XM_011525642.1:c.410G>A | XP_011523944.1:p.Gly137Glu | |
| XM_011525643.1:c.410G>A | XP_011523945.1:p.Gly137Glu | |
| XM_011525644.1:c.26G>A | XP_011523946.1:p.Gly9Glu | |
| XM_011525645.1:c.-333G>A | XP_011523947.1:n.-333G>A | |
| XM_011525646.1:c.410G>A | XP_011523948.1:p.Gly137Glu | |
| XM_011525647.1:c.410G>A | XP_011523949.1:p.Gly137Glu | |
| XR_430039.1:n.599G>A | ||
| XR_935054.1:n.599G>A | ||
| XR_935055.1:n.599G>A | ||
| XM_011525643.2:c.410G>A | XP_011523945.1:p.Gly137Glu | |
| XM_017025684.1:c.-333G>A | XP_016881173.1:n.-333G>A | |
| XR_001753172.1:n.599G>A | ||
| XR_001753173.1:n.599G>A | ||
| XR_001753174.1:n.599G>A | ||
| XR_001753175.1:n.599G>A | ||
| XR_001753176.1:n.599G>A | ||
| XR_001753177.1:n.599G>A | ||
| XR_001753178.1:n.599G>A | ||
| XR_001753179.1:n.599G>A | ||
| XR_935055.2:n.599G>A | ||
| NM_015295.3:c.410G>A MANE Select | NP_056110.2:p.Gly137Glu |