Revel Score:
ENST00000403665 (MANE Select)
0.986
ENST00000264692
0.986
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284209G>T , CM000666.2:g.186284209G>T | GRCh38 |
| NC_000004.11:g.187205363G>T , CM000666.1:g.187205363G>T | GRCh37 |
| NC_000004.10:g.187442357G>T | NCBI36 |
| NG_008051.1:g.23246G>T , LRG_583:g.23246G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1253G>T MANE Select | ENSP00000384957.2:p.Gly418Val | |
| ENST00000264692.8:c.1091G>T | ENSP00000264692.5:p.Gly364Val | |
| ENST00000403665.6:c.1253G>T | ENSP00000384957.2:p.Gly418Val | |
| NM_000128.3:c.1253G>T , LRG_583t1:c.1253G>T | NP_000119.1:p.Gly418Val | |
| XM_005262821.2:c.1256G>T | XP_005262878.1:p.Gly419Val | |
| XM_005262822.2:c.1256G>T | XP_005262879.1:p.Gly419Val | |
| XM_005262823.2:c.986G>T | XP_005262880.1:p.Gly329Val | |
| XM_005262824.1:c.1256G>T | XP_005262881.1:p.Gly419Val | |
| XM_006714137.1:c.1208G>T | XP_006714200.1:p.Gly403Val | |
| XR_938706.1:n.1661G>T | ||
| XR_938707.1:n.1661G>T | ||
| XM_005262821.4:c.1256G>T | XP_005262878.1:p.Gly419Val | |
| XM_005262822.4:c.1256G>T | XP_005262879.1:p.Gly419Val | |
| XM_005262823.4:c.986G>T | XP_005262880.1:p.Gly329Val | |
| XM_006714137.3:c.1208G>T | XP_006714200.1:p.Gly403Val | |
| XR_001741172.2:n.1727G>T | ||
| NM_000128.4:c.1253G>T MANE Select | NP_000119.1:p.Gly418Val |