Revel Score:
ENST00000305242 (MANE Select)
0.103
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00122596 (EAS)
Genomes Max Group AF
0.00026337 (EAS)
Exomes Max Group AF
0.00129481 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27995117G>A , CM000672.2:g.27995117G>A | GRCh38 |
| NC_000010.10:g.28284046G>A , CM000672.1:g.28284046G>A | GRCh37 |
| NC_000010.9:g.28324052G>A | NCBI36 |
| NG_042820.1:g.8934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305242.10:c.26C>T MANE Select | ENSP00000306410.5:p.Thr9Met | |
| ENST00000486279.2:c.26C>T | ENSP00000473438.2:p.Thr9Met | |
| ENST00000673439.1:c.26C>T | ENSP00000500782.1:p.Thr9Met | |
| ENST00000305242.9:c.26C>T | ENSP00000306410.5:p.Thr9Met | |
| ENST00000486279.1:c.26C>T | ENSP00000473438.1:p.Thr9Met | |
| NM_001290020.1:c.26C>T | NP_001276949.1:p.Thr9Met | |
| NM_018076.3:c.26C>T | NP_060546.2:p.Thr9Met | |
| NM_018076.4:c.26C>T | NP_060546.2:p.Thr9Met | |
| XM_011519526.1:c.26C>T | XP_011517828.1:p.Thr9Met | |
| XM_011519527.1:c.26C>T | XP_011517829.1:p.Thr9Met | |
| XM_011519528.1:c.26C>T | XP_011517830.1:p.Thr9Met | |
| XM_011519529.1:c.26C>T | XP_011517831.1:p.Thr9Met | |
| XM_011519530.1:c.26C>T | XP_011517832.1:p.Thr9Met | |
| XM_011519531.1:c.26C>T | XP_011517833.1:p.Thr9Met | |
| XM_011519532.1:c.26C>T | XP_011517834.1:p.Thr9Met | |
| XM_011519536.1:c.26C>T | XP_011517838.1:p.Thr9Met | |
| XM_017016371.1:c.26C>T | XP_016871860.1:p.Thr9Met | |
| XM_024448049.1:c.26C>T | XP_024303817.1:p.Thr9Met | |
| XM_024448050.1:c.26C>T | XP_024303818.1:p.Thr9Met | |
| XM_024448051.1:c.26C>T | XP_024303819.1:p.Thr9Met | |
| XM_024448052.1:c.26C>T | XP_024303820.1:p.Thr9Met | |
| XM_024448053.1:c.26C>T | XP_024303821.1:p.Thr9Met | |
| XM_024448054.1:c.26C>T | XP_024303822.1:p.Thr9Met | |
| XR_002957065.1:n.220G>A | ||
| NM_001290020.2:c.26C>T | NP_001276949.1:p.Thr9Met | |
| NM_018076.5:c.26C>T MANE Select | NP_060546.2:p.Thr9Met |