Revel Score:
ENST00000402125
0.052
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04238979 (EAS)
Genomes Max Group AF
0.03659711 (EAS)
Exomes Max Group AF
0.04265772 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428451C>T , CM000664.2:g.127428451C>T | GRCh38 |
| NC_000002.11:g.128186027C>T , CM000664.1:g.128186027C>T | GRCh37 |
| NC_000002.10:g.127902497C>T | NCBI36 |
| NG_016323.1:g.15032C>T , LRG_599:g.15032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.891C>T MANE Select | ENSP00000234071.4:p.Asp297= | |
| ENST00000234071.7:c.891C>T | ENSP00000234071.3:p.Asp297= | |
| ENST00000402125.2:c.215C>T | ||
| ENST00000409048.1:c.993C>T | ENSP00000386679.1:p.Asp331= | |
| NM_000312.3:c.891C>T , LRG_599t1:c.891C>T | NP_000303.1:p.Asp297= | |
| XM_005263715.3:c.1074C>T | XP_005263772.1:p.Asp358= | |
| XM_005263716.3:c.1056C>T | XP_005263773.1:p.Asp352= | |
| XM_005263717.3:c.954C>T | XP_005263774.1:p.Asp318= | |
| XR_923313.1:n.1332-187G>A | ||
| XM_005263717.4:c.954C>T | XP_005263774.1:p.Asp318= | |
| XM_017004505.1:c.1134C>T | XP_016859994.1:p.Asp378= | |
| XM_024453002.1:c.1236C>T | XP_024308770.1:p.Asp412= | |
| XM_024453003.1:c.1176C>T | XP_024308771.1:p.Asp392= | |
| XM_024453004.1:c.1074C>T | XP_024308772.1:p.Asp358= | |
| XM_024453005.1:c.1056C>T | XP_024308773.1:p.Asp352= | |
| XM_024453006.1:c.993C>T | XP_024308774.1:p.Asp331= | |
| XR_001739705.1:n.3607-187G>A | ||
| XR_923313.2:n.4043-187G>A | ||
| NM_000312.4:c.891C>T MANE Select | NP_000303.1:p.Asp297= | |
| NM_001375602.1:c.1074C>T | NP_001362531.1:p.Asp358= | |
| NM_001375603.1:c.1056C>T | NP_001362532.1:p.Asp352= | |
| NM_001375604.1:c.954C>T | NP_001362533.1:p.Asp318= | |
| NM_001375605.1:c.993C>T | NP_001362534.1:p.Asp331= | |
| NM_001375606.1:c.1059C>T | NP_001362535.1:p.Asp353= | |
| NM_001375607.1:c.1077C>T | NP_001362536.1:p.Asp359= | |
| NM_001375608.1:c.834C>T | NP_001362537.1:p.Asp278= | |
| NM_001375609.1:c.867C>T | NP_001362538.1:p.Asp289= | |
| NM_001375610.1:c.885C>T | NP_001362539.1:p.Asp295= | |
| NM_001375611.1:c.891C>T | NP_001362540.1:p.Asp297= | |
| NM_001375613.1:c.891C>T | NP_001362542.1:p.Asp297= |