Revel Score:
ENST00000434810
0.204
ENST00000456369
0.204
ENST00000348295
0.055
ENST00000382578
0.055
ENST00000544772
0.055
ENST00000328354
0.055
ENST00000404276 (MANE Select)
0.055
ENST00000405598
0.055
ENST00000382580
0.055
ENST00000403642
0.055
ENST00000402731
0.055
ENST00000447421
0.055
ENST00000425190
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699886T>A , CM000684.2:g.28699886T>A | GRCh38 |
| NC_000022.10:g.29095874T>A , CM000684.1:g.29095874T>A | GRCh37 |
| NC_000022.9:g.27425874T>A | NCBI36 |
| NG_008150.1:g.46949A>T | |
| NG_008150.2:g.46981A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.869A>T | ENSP00000396903.2:n.869A>T | |
| ENST00000711048.1:c.960A>T | ENSP00000518557.1:p.Lys320Asn | |
| ENST00000402731.6:c.759A>T | ENSP00000384835.2:p.Lys253Asn | |
| ENST00000404276.6:c.960A>T MANE Select | ENSP00000385747.1:p.Lys320Asn | |
| ENST00000425190.7:c.297A>T | ENSP00000390244.2:p.Lys99Asn | |
| ENST00000464581.6:c.300A>T | ENSP00000483777.2:p.Lys100Asn | |
| ENST00000648295.1:n.512A>T | ||
| ENST00000649563.1:c.297A>T | ENSP00000496928.1:p.Lys99Asn | |
| ENST00000650281.1:c.960A>T | ENSP00000497000.1:p.Lys320Asn | |
| ENST00000328354.10:c.960A>T | ENSP00000329178.6:p.Lys320Asn | |
| ENST00000348295.7:c.960A>T | ENSP00000329012.5:p.Lys320Asn | |
| ENST00000382580.6:c.1089A>T | ENSP00000372023.2:p.Lys363Asn | |
| ENST00000402731.5:c.960A>T | ENSP00000384835.1:p.Lys320Asn | |
| ENST00000403642.5:c.687A>T | ENSP00000384919.1:p.Lys229Asn | |
| ENST00000404276.5:c.960A>T | ENSP00000385747.1:p.Lys320Asn | |
| ENST00000405598.5:c.960A>T | ENSP00000386087.1:p.Lys320Asn | |
| ENST00000416671.5:c.*450A>T | ENSP00000402225.1:n.*450A>T | |
| ENST00000417588.5:c.869A>T | ENSP00000412901.1:n.869A>T | |
| ENST00000425190.6:c.297A>T | ENSP00000390244.1:p.Lys99Asn | |
| ENST00000433028.6:c.*685A>T | ENSP00000403659.1:n.*685A>T | |
| ENST00000433728.5:c.898A>T | ENSP00000404400.1:n.898A>T | |
| ENST00000434810.5:c.191A>T | ||
| ENST00000439346.5:c.431A>T | ENSP00000396903.1:n.431A>T | |
| ENST00000447421.5:c.759A>T | ENSP00000397478.2:p.Lys253Asn | |
| ENST00000448511.5:c.850A>T | ENSP00000404567.1:n.850A>T | |
| ENST00000456369.5:c.215A>T | ||
| ENST00000464581.5:c.300A>T | ENSP00000483777.1:p.Lys100Asn | |
| ENST00000491919.5:n.517A>T | ||
| NM_001005735.1:c.1089A>T | NP_001005735.1:p.Lys363Asn | |
| NM_001257387.1:c.297A>T | NP_001244316.1:p.Lys99Asn | |
| NM_007194.3:c.960A>T | NP_009125.1:p.Lys320Asn | |
| NM_145862.2:c.960A>T | NP_665861.1:p.Lys320Asn | |
| XM_006724114.2:c.480A>T | XP_006724177.1:p.Lys160Asn | |
| XM_006724116.2:c.417A>T | XP_006724179.2:p.Lys139Asn | |
| XM_011529839.1:c.1119A>T | XP_011528141.1:p.Lys373Asn | |
| XM_011529840.1:c.1119A>T | XP_011528142.1:p.Lys373Asn | |
| XM_011529841.1:c.888A>T | XP_011528143.1:p.Lys296Asn | |
| XM_011529842.1:c.789A>T | XP_011528144.1:p.Lys263Asn | |
| XM_011529843.1:c.759A>T | XP_011528145.1:p.Lys253Asn | |
| XM_011529844.1:c.1119A>T | XP_011528146.1:p.Lys373Asn | |
| XM_011529845.1:c.297A>T | XP_011528147.1:p.Lys99Asn | |
| XR_937805.1:n.1119A>T | ||
| XR_937806.1:n.1114A>T | ||
| XR_937807.1:n.1114A>T | ||
| NM_001349956.1:c.759A>T | NP_001336885.1:p.Lys253Asn | |
| NM_007194.4:c.960A>T MANE Select | NP_009125.1:p.Lys320Asn | |
| XM_006724114.3:c.513A>T | XP_006724177.2:p.Lys171Asn | |
| XM_011529839.2:c.1119A>T | XP_011528141.1:p.Lys373Asn | |
| XM_011529840.3:c.1119A>T | XP_011528142.1:p.Lys373Asn | |
| XM_011529842.2:c.789A>T | XP_011528144.1:p.Lys263Asn | |
| XM_011529844.2:c.1119A>T | XP_011528146.1:p.Lys373Asn | |
| XM_011529845.2:c.297A>T | XP_011528147.1:p.Lys99Asn | |
| XM_017028560.1:c.1083A>T | XP_016884049.1:p.Lys361Asn | |
| XM_017028561.2:c.297A>T | XP_016884050.1:p.Lys99Asn | |
| XM_024452148.1:c.990A>T | XP_024307916.1:p.Lys330Asn | |
| XM_024452149.1:c.990A>T | XP_024307917.1:p.Lys330Asn | |
| XR_937805.2:n.1130A>T | ||
| XR_937806.2:n.1130A>T | ||
| XR_937807.2:n.1130A>T | ||
| NM_001005735.2:c.1089A>T | NP_001005735.1:p.Lys363Asn | |
| NM_001257387.2:c.297A>T | NP_001244316.1:p.Lys99Asn | |
| NM_001349956.2:c.759A>T | NP_001336885.1:p.Lys253Asn |