Revel Score:
ENST00000434810
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003472 (NFE)
Exomes Max Group AF
0.000036 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695128T>C , CM000684.2:g.28695128T>C | GRCh38 |
| NC_000022.10:g.29091116T>C , CM000684.1:g.29091116T>C | GRCh37 |
| NC_000022.9:g.27421116T>C | NCBI36 |
| NG_008150.1:g.51707A>G | |
| NG_008150.2:g.51739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*109A>G | ENSP00000518557.1:n.*109A>G | |
| ENST00000402731.6:c.1173A>G | ENSP00000384835.2:p.Lys391= | |
| ENST00000404276.6:c.1374A>G MANE Select | ENSP00000385747.1:p.Lys458= | |
| ENST00000425190.7:c.711A>G | ENSP00000390244.2:p.Lys237= | |
| ENST00000464581.6:c.714A>G | ENSP00000483777.2:p.Lys238= | |
| ENST00000648295.1:n.926A>G | ||
| ENST00000649563.1:c.711A>G | ENSP00000496928.1:p.Lys237= | |
| ENST00000650281.1:c.1374A>G | ENSP00000497000.1:p.Lys458= | |
| ENST00000328354.10:c.1374A>G | ENSP00000329178.6:p.Lys458= | |
| ENST00000348295.7:c.1287A>G | ENSP00000329012.5:p.Lys429= | |
| ENST00000382580.6:c.1503A>G | ENSP00000372023.2:p.Lys501= | |
| ENST00000402731.5:c.1287A>G | ENSP00000384835.1:p.Lys429= | |
| ENST00000403642.5:c.1101A>G | ENSP00000384919.1:p.Lys367= | |
| ENST00000404276.5:c.1374A>G | ENSP00000385747.1:p.Lys458= | |
| ENST00000405598.5:c.1374A>G | ENSP00000386087.1:p.Lys458= | |
| ENST00000416671.5:c.*864A>G | ENSP00000402225.1:n.*864A>G | |
| ENST00000417588.5:c.1283A>G | ENSP00000412901.1:n.1283A>G | |
| ENST00000433728.5:c.1312A>G | ENSP00000404400.1:n.1312A>G | |
| ENST00000434810.5:c.572A>G | ||
| ENST00000448511.5:c.1264A>G | ENSP00000404567.1:n.1264A>G | |
| ENST00000456369.5:c.263+4710A>G | ||
| NM_001005735.1:c.1503A>G | NP_001005735.1:p.Lys501= | |
| NM_001257387.1:c.711A>G | NP_001244316.1:p.Lys237= | |
| NM_007194.3:c.1374A>G | NP_009125.1:p.Lys458= | |
| NM_145862.2:c.1287A>G | NP_665861.1:p.Lys429= | |
| XM_006724114.2:c.894A>G | XP_006724177.1:p.Lys298= | |
| XM_006724116.2:c.831A>G | XP_006724179.2:p.Lys277= | |
| XM_011529839.1:c.1533A>G | XP_011528141.1:p.Lys511= | |
| XM_011529840.1:c.1446A>G | XP_011528142.1:p.Lys482= | |
| XM_011529841.1:c.1302A>G | XP_011528143.1:p.Lys434= | |
| XM_011529842.1:c.1203A>G | XP_011528144.1:p.Lys401= | |
| XM_011529843.1:c.1173A>G | XP_011528145.1:p.Lys391= | |
| XM_011529845.1:c.711A>G | XP_011528147.1:p.Lys237= | |
| XR_937805.1:n.1533A>G | ||
| NM_001349956.1:c.1173A>G | NP_001336885.1:p.Lys391= | |
| NM_007194.4:c.1374A>G MANE Select | NP_009125.1:p.Lys458= | |
| XM_006724114.3:c.927A>G | XP_006724177.2:p.Lys309= | |
| XM_011529839.2:c.1533A>G | XP_011528141.1:p.Lys511= | |
| XM_011529840.3:c.1446A>G | XP_011528142.1:p.Lys482= | |
| XM_011529842.2:c.1203A>G | XP_011528144.1:p.Lys401= | |
| XM_011529845.2:c.711A>G | XP_011528147.1:p.Lys237= | |
| XM_017028560.1:c.1497A>G | XP_016884049.1:p.Lys499= | |
| XM_017028561.2:c.711A>G | XP_016884050.1:p.Lys237= | |
| XM_024452148.1:c.1404A>G | XP_024307916.1:p.Lys468= | |
| XM_024452149.1:c.1317A>G | XP_024307917.1:p.Lys439= | |
| XR_937805.2:n.1544A>G | ||
| NM_001005735.2:c.1503A>G | NP_001005735.1:p.Lys501= | |
| NM_001257387.2:c.711A>G | NP_001244316.1:p.Lys237= | |
| NM_001349956.2:c.1173A>G | NP_001336885.1:p.Lys391= |