Revel Score:
ENST00000403665 (MANE Select)
0.919
ENST00000264692
0.919
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284245C>T , CM000666.2:g.186284245C>T | GRCh38 |
| NC_000004.11:g.187205399C>T , CM000666.1:g.187205399C>T | GRCh37 |
| NC_000004.10:g.187442393C>T | NCBI36 |
| NG_008051.1:g.23282C>T , LRG_583:g.23282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1289C>T MANE Select | ENSP00000384957.2:p.Ala430Val | |
| ENST00000264692.8:c.1127C>T | ENSP00000264692.5:p.Ala376Val | |
| ENST00000403665.6:c.1289C>T | ENSP00000384957.2:p.Ala430Val | |
| NM_000128.3:c.1289C>T , LRG_583t1:c.1289C>T | NP_000119.1:p.Ala430Val | |
| XM_005262821.2:c.1292C>T | XP_005262878.1:p.Ala431Val | |
| XM_005262822.2:c.1292C>T | XP_005262879.1:p.Ala431Val | |
| XM_005262823.2:c.1022C>T | XP_005262880.1:p.Ala341Val | |
| XM_005262824.1:c.1292C>T | XP_005262881.1:p.Ala431Val | |
| XM_006714137.1:c.1244C>T | XP_006714200.1:p.Ala415Val | |
| XR_938706.1:n.1697C>T | ||
| XR_938707.1:n.1697C>T | ||
| XM_005262821.4:c.1292C>T | XP_005262878.1:p.Ala431Val | |
| XM_005262822.4:c.1292C>T | XP_005262879.1:p.Ala431Val | |
| XM_005262823.4:c.1022C>T | XP_005262880.1:p.Ala341Val | |
| XM_006714137.3:c.1244C>T | XP_006714200.1:p.Ala415Val | |
| XR_001741172.2:n.1763C>T | ||
| NM_000128.4:c.1289C>T MANE Select | NP_000119.1:p.Ala430Val |