Revel Score:
ENST00000348295
0.066
ENST00000382578
0.066
ENST00000382565
0.066
ENST00000382563
0.066
ENST00000544772
0.066
ENST00000328354
0.066
ENST00000404276 (MANE Select)
0.066
ENST00000405598
0.066
ENST00000382580
0.066
ENST00000403642
0.066
ENST00000402731
0.066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28687911C>T , CM000684.2:g.28687911C>T | GRCh38 |
| NC_000022.10:g.29083899C>T , CM000684.1:g.29083899C>T | GRCh37 |
| NC_000022.9:g.27413899C>T | NCBI36 |
| NG_008150.1:g.58924G>A | |
| NG_008150.2:g.58956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*353G>A | ENSP00000518557.1:n.*353G>A | |
| ENST00000402731.6:c.1417G>A | ENSP00000384835.2:p.Ala473Thr | |
| ENST00000404276.6:c.1618G>A MANE Select | ENSP00000385747.1:p.Ala540Thr | |
| ENST00000425190.7:c.955G>A | ENSP00000390244.2:p.Ala319Thr | |
| ENST00000464581.6:c.958G>A | ENSP00000483777.2:p.Ala320Thr | |
| ENST00000648295.1:n.1170G>A | ||
| ENST00000649563.1:c.955G>A | ENSP00000496928.1:p.Ala319Thr | |
| ENST00000650281.1:c.1618G>A | ENSP00000497000.1:p.Ala540Thr | |
| ENST00000328354.10:c.1618G>A | ENSP00000329178.6:p.Ala540Thr | |
| ENST00000348295.7:c.1531G>A | ENSP00000329012.5:p.Ala511Thr | |
| ENST00000382580.6:c.1747G>A | ENSP00000372023.2:p.Ala583Thr | |
| ENST00000402731.5:c.1531G>A | ENSP00000384835.1:p.Ala511Thr | |
| ENST00000403642.5:c.1345G>A | ENSP00000384919.1:p.Ala449Thr | |
| ENST00000404276.5:c.1618G>A | ENSP00000385747.1:p.Ala540Thr | |
| ENST00000405598.5:c.1618G>A | ENSP00000386087.1:p.Ala540Thr | |
| ENST00000416671.5:c.*1108G>A | ENSP00000402225.1:n.*1108G>A | |
| ENST00000417588.5:c.1527G>A | ENSP00000412901.1:n.1527G>A | |
| ENST00000433728.5:c.1556G>A | ENSP00000404400.1:n.1556G>A | |
| ENST00000434810.5:c.816G>A | ||
| ENST00000448511.5:c.1508G>A | ENSP00000404567.1:n.1508G>A | |
| ENST00000456369.5:c.420G>A | ||
| ENST00000472807.1:n.352G>A | ||
| NM_001005735.1:c.1747G>A | NP_001005735.1:p.Ala583Thr | |
| NM_001257387.1:c.955G>A | NP_001244316.1:p.Ala319Thr | |
| NM_007194.3:c.1618G>A | NP_009125.1:p.Ala540Thr | |
| NM_145862.2:c.1531G>A | NP_665861.1:p.Ala511Thr | |
| XM_006724114.2:c.1138G>A | XP_006724177.1:p.Ala380Thr | |
| XM_006724116.2:c.1075G>A | XP_006724179.2:p.Ala359Thr | |
| XM_011529839.1:c.1777G>A | XP_011528141.1:p.Ala593Thr | |
| XM_011529840.1:c.1690G>A | XP_011528142.1:p.Ala564Thr | |
| XM_011529841.1:c.1546G>A | XP_011528143.1:p.Ala516Thr | |
| XM_011529842.1:c.1447G>A | XP_011528144.1:p.Ala483Thr | |
| XM_011529843.1:c.1417G>A | XP_011528145.1:p.Ala473Thr | |
| XM_011529845.1:c.955G>A | XP_011528147.1:p.Ala319Thr | |
| XR_937805.1:n.1777G>A | ||
| NM_001349956.1:c.1417G>A | NP_001336885.1:p.Ala473Thr | |
| NM_007194.4:c.1618G>A MANE Select | NP_009125.1:p.Ala540Thr | |
| XM_006724114.3:c.1171G>A | XP_006724177.2:p.Ala391Thr | |
| XM_011529839.2:c.1777G>A | XP_011528141.1:p.Ala593Thr | |
| XM_011529840.3:c.1690G>A | XP_011528142.1:p.Ala564Thr | |
| XM_011529842.2:c.1447G>A | XP_011528144.1:p.Ala483Thr | |
| XM_011529845.2:c.955G>A | XP_011528147.1:p.Ala319Thr | |
| XM_017028560.1:c.1741G>A | XP_016884049.1:p.Ala581Thr | |
| XM_017028561.2:c.955G>A | XP_016884050.1:p.Ala319Thr | |
| XM_024452148.1:c.1648G>A | XP_024307916.1:p.Ala550Thr | |
| XM_024452149.1:c.1561G>A | XP_024307917.1:p.Ala521Thr | |
| XR_937805.2:n.1788G>A | ||
| NM_001005735.2:c.1747G>A | NP_001005735.1:p.Ala583Thr | |
| NM_001257387.2:c.955G>A | NP_001244316.1:p.Ala319Thr | |
| NM_001349956.2:c.1417G>A | NP_001336885.1:p.Ala473Thr |