Revel Score:
ENST00000265348 (MANE Select)
0.901
ENST00000535468
0.901
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43038927C>T , CM000668.2:g.43038927C>T | GRCh38 |
| NC_000006.11:g.43006665C>T , CM000668.1:g.43006665C>T | GRCh37 |
| NC_000006.10:g.43114643C>T | NCBI36 |
| NG_016205.1:g.20019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.2426G>A | ||
| ENST00000674112.2:c.4355G>A | ENSP00000501166.2:p.Gly1452Asp | |
| ENST00000683242.1:n.753G>A | ||
| ENST00000685042.1:c.*1011G>A | ENSP00000509871.1:n.*1011G>A | |
| ENST00000686442.1:n.5084G>A | ||
| ENST00000687225.1:c.*2652G>A | ENSP00000509364.1:n.*2652G>A | |
| ENST00000688302.1:n.4638G>A | ||
| ENST00000689256.1:n.4932G>A | ||
| ENST00000690231.1:c.4355G>A | ENSP00000508461.1:p.Gly1452Asp | |
| ENST00000692002.1:c.368G>A | ENSP00000508567.1:p.Gly123Asp | |
| ENST00000265348.9:c.4355G>A MANE Select | ENSP00000265348.4:p.Gly1452Asp | |
| ENST00000673725.1:c.2226G>A | ||
| ENST00000673753.1:n.5194G>A | ||
| ENST00000674100.1:c.4451G>A | ENSP00000501292.1:p.Gly1484Asp | |
| ENST00000674112.1:c.2847G>A | ||
| ENST00000674134.1:c.4451G>A | ENSP00000501068.1:p.Gly1484Asp | |
| ENST00000265348.7:c.4355G>A | ENSP00000265348.3:p.Gly1452Asp | |
| ENST00000535468.1:c.4607G>A | ENSP00000438788.1:p.Gly1536Asp | |
| NM_001168370.1:c.4607G>A | NP_001161842.1:p.Gly1536Asp | |
| NM_014780.4:c.4355G>A | NP_055595.2:p.Gly1452Asp | |
| XM_005249503.1:c.4511G>A | XP_005249560.1:p.Gly1504Asp | |
| XM_006715285.1:c.4451G>A | XP_006715348.1:p.Gly1484Asp | |
| XM_011515019.1:c.4607G>A | XP_011513321.1:p.Gly1536Asp | |
| XM_011515020.1:c.4511G>A | XP_011513322.1:p.Gly1504Asp | |
| XM_011515021.1:c.2216G>A | XP_011513323.1:p.Gly739Asp | |
| XM_005249503.3:c.4511G>A | XP_005249560.1:p.Gly1504Asp | |
| XM_006715285.2:c.4451G>A | XP_006715348.1:p.Gly1484Asp | |
| XM_011515019.2:c.4607G>A | XP_011513321.1:p.Gly1536Asp | |
| XM_011515020.2:c.4511G>A | XP_011513322.1:p.Gly1504Asp | |
| XM_017011533.1:c.4634G>A | XP_016867022.1:p.Gly1545Asp | |
| XM_017011534.1:c.4634G>A | XP_016867023.1:p.Gly1545Asp | |
| XM_017011535.1:c.4538G>A | XP_016867024.1:p.Gly1513Asp | |
| XM_017011536.2:c.4478G>A | XP_016867025.1:p.Gly1493Asp | |
| XM_017011537.2:c.4451G>A | XP_016867026.1:p.Gly1484Asp | |
| XM_017011538.2:c.4382G>A | XP_016867027.1:p.Gly1461Asp | |
| XM_017011539.2:c.4355G>A | XP_016867028.1:p.Gly1452Asp | |
| NM_001168370.2:c.4451G>A | NP_001161842.2:p.Gly1484Asp | |
| NM_001374872.1:c.4451G>A | NP_001361801.1:p.Gly1484Asp | |
| NM_001374873.1:c.4355G>A | NP_001361802.1:p.Gly1452Asp | |
| NM_001374874.1:c.4352G>A | NP_001361803.1:p.Gly1451Asp | |
| NM_014780.5:c.4355G>A MANE Select | NP_055595.2:p.Gly1452Asp |