Revel Score:
ENST00000403665 (MANE Select)
0.976
ENST00000264692
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284209G>A , CM000666.2:g.186284209G>A | GRCh38 |
| NC_000004.11:g.187205363G>A , CM000666.1:g.187205363G>A | GRCh37 |
| NC_000004.10:g.187442357G>A | NCBI36 |
| NG_008051.1:g.23246G>A , LRG_583:g.23246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1253G>A MANE Select | ENSP00000384957.2:p.Gly418Asp | |
| ENST00000264692.8:c.1091G>A | ENSP00000264692.5:p.Gly364Asp | |
| ENST00000403665.6:c.1253G>A | ENSP00000384957.2:p.Gly418Asp | |
| NM_000128.3:c.1253G>A , LRG_583t1:c.1253G>A | NP_000119.1:p.Gly418Asp | |
| XM_005262821.2:c.1256G>A | XP_005262878.1:p.Gly419Asp | |
| XM_005262822.2:c.1256G>A | XP_005262879.1:p.Gly419Asp | |
| XM_005262823.2:c.986G>A | XP_005262880.1:p.Gly329Asp | |
| XM_005262824.1:c.1256G>A | XP_005262881.1:p.Gly419Asp | |
| XM_006714137.1:c.1208G>A | XP_006714200.1:p.Gly403Asp | |
| XR_938706.1:n.1661G>A | ||
| XR_938707.1:n.1661G>A | ||
| XM_005262821.4:c.1256G>A | XP_005262878.1:p.Gly419Asp | |
| XM_005262822.4:c.1256G>A | XP_005262879.1:p.Gly419Asp | |
| XM_005262823.4:c.986G>A | XP_005262880.1:p.Gly329Asp | |
| XM_006714137.3:c.1208G>A | XP_006714200.1:p.Gly403Asp | |
| XR_001741172.2:n.1727G>A | ||
| NM_000128.4:c.1253G>A MANE Select | NP_000119.1:p.Gly418Asp |