Revel Score:
ENST00000434810
0.048
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.00001913 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28696913G>A , CM000684.2:g.28696913G>A | GRCh38 |
| NC_000022.10:g.29092901G>A , CM000684.1:g.29092901G>A | GRCh37 |
| NC_000022.9:g.27422901G>A | NCBI36 |
| NG_008150.1:g.49922C>T | |
| NG_008150.2:g.49954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-1671C>T | ENSP00000518557.1:n.1009-1671C>T | |
| ENST00000402731.6:c.882C>T | ENSP00000384835.2:p.Asp294= | |
| ENST00000404276.6:c.1083C>T MANE Select | ENSP00000385747.1:p.Asp361= | |
| ENST00000425190.7:c.420C>T | ENSP00000390244.2:p.Asp140= | |
| ENST00000464581.6:c.423C>T | ENSP00000483777.2:p.Asp141= | |
| ENST00000648295.1:n.635C>T | ||
| ENST00000649563.1:c.420C>T | ENSP00000496928.1:p.Asp140= | |
| ENST00000650281.1:c.1083C>T | ENSP00000497000.1:p.Asp361= | |
| ENST00000328354.10:c.1083C>T | ENSP00000329178.6:p.Asp361= | |
| ENST00000348295.7:c.1009-1040C>T | ENSP00000329012.5:n.1009-1040C>T | |
| ENST00000382580.6:c.1212C>T | ENSP00000372023.2:p.Asp404= | |
| ENST00000402731.5:c.1009-1040C>T | ENSP00000384835.1:n.1009-1040C>T | |
| ENST00000403642.5:c.810C>T | ENSP00000384919.1:p.Asp270= | |
| ENST00000404276.5:c.1083C>T | ENSP00000385747.1:p.Asp361= | |
| ENST00000405598.5:c.1083C>T | ENSP00000386087.1:p.Asp361= | |
| ENST00000416671.5:c.*573C>T | ENSP00000402225.1:n.*573C>T | |
| ENST00000417588.5:c.992C>T | ENSP00000412901.1:n.992C>T | |
| ENST00000433028.6:c.*808C>T | ENSP00000403659.1:n.*808C>T | |
| ENST00000433728.5:c.1021C>T | ENSP00000404400.1:n.1021C>T | |
| ENST00000434810.5:c.314C>T | ||
| ENST00000447421.5:c.882C>T | ENSP00000397478.2:p.Asp294= | |
| ENST00000448511.5:c.973C>T | ENSP00000404567.1:n.973C>T | |
| ENST00000456369.5:c.263+2925C>T | ||
| NM_001005735.1:c.1212C>T | NP_001005735.1:p.Asp404= | |
| NM_001257387.1:c.420C>T | NP_001244316.1:p.Asp140= | |
| NM_007194.3:c.1083C>T | NP_009125.1:p.Asp361= | |
| NM_145862.2:c.1009-1040C>T | NP_665861.1:n.1009-1040C>T | |
| XM_006724114.2:c.603C>T | XP_006724177.1:p.Asp201= | |
| XM_006724116.2:c.540C>T | XP_006724179.2:p.Asp180= | |
| XM_011529839.1:c.1242C>T | XP_011528141.1:p.Asp414= | |
| XM_011529840.1:c.1168-1040C>T | XP_011528142.1:n.1168-1040C>T | |
| XM_011529841.1:c.1011C>T | XP_011528143.1:p.Asp337= | |
| XM_011529842.1:c.912C>T | XP_011528144.1:p.Asp304= | |
| XM_011529843.1:c.882C>T | XP_011528145.1:p.Asp294= | |
| XM_011529845.1:c.420C>T | XP_011528147.1:p.Asp140= | |
| XR_937805.1:n.1242C>T | ||
| XR_937806.1:n.1163-1040C>T | ||
| NM_001349956.1:c.882C>T | NP_001336885.1:p.Asp294= | |
| NM_007194.4:c.1083C>T MANE Select | NP_009125.1:p.Asp361= | |
| XM_006724114.3:c.636C>T | XP_006724177.2:p.Asp212= | |
| XM_011529839.2:c.1242C>T | XP_011528141.1:p.Asp414= | |
| XM_011529840.3:c.1168-1040C>T | XP_011528142.1:n.1168-1040C>T | |
| XM_011529842.2:c.912C>T | XP_011528144.1:p.Asp304= | |
| XM_011529845.2:c.420C>T | XP_011528147.1:p.Asp140= | |
| XM_017028560.1:c.1206C>T | XP_016884049.1:p.Asp402= | |
| XM_017028561.2:c.420C>T | XP_016884050.1:p.Asp140= | |
| XM_024452148.1:c.1113C>T | XP_024307916.1:p.Asp371= | |
| XM_024452149.1:c.1039-1040C>T | XP_024307917.1:n.1039-1040C>T | |
| XR_937805.2:n.1253C>T | ||
| XR_937806.2:n.1179-1040C>T | ||
| NM_001005735.2:c.1212C>T | NP_001005735.1:p.Asp404= | |
| NM_001257387.2:c.420C>T | NP_001244316.1:p.Asp140= | |
| NM_001349956.2:c.882C>T | NP_001336885.1:p.Asp294= |