gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8379771 (EAS)
Genomes Max Group AF
0.8379771 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139354169C>T , CM000665.2:g.139354169C>T | GRCh38 |
| NC_000003.11:g.139073011C>T , CM000665.1:g.139073011C>T | GRCh37 |
| NC_000003.10:g.140555701C>T | NCBI36 |
| NG_012174.1:g.15151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478464.6:c.668+1377C>T (MRPS22) | ENSP00000419303.2:n.668+1377C>T | |
| ENST00000480644.2:c.794+1377C>T (MRPS22) | ENSP00000420229.2:n.794+1377C>T | |
| ENST00000492644.2:n.3132+1377C>T (MRPS22) | ||
| ENST00000684961.1:c.497+1377C>T (MRPS22) | ENSP00000508439.1:n.497+1377C>T | |
| ENST00000686433.1:c.824+1377C>T (MRPS22) | ENSP00000509173.1:n.824+1377C>T | |
| ENST00000687538.1:c.668+1377C>T (MRPS22) | ENSP00000508887.1:n.668+1377C>T | |
| ENST00000688697.1:c.878+1377C>T (MRPS22) | ENSP00000510396.1:n.878+1377C>T | |
| ENST00000689286.1:c.668+1377C>T (MRPS22) | ENSP00000509897.1:n.668+1377C>T | |
| ENST00000689925.1:c.*219+1377C>T (MRPS22) | ENSP00000510082.1:n.*219+1377C>T | |
| ENST00000690298.1:c.*519+1377C>T (MRPS22) | ENSP00000509376.1:n.*519+1377C>T | |
| ENST00000691070.1:c.794+1377C>T (MRPS22) | ENSP00000509723.1:n.794+1377C>T | |
| ENST00000692727.1:n.3400+1377C>T (MRPS22) | ||
| ENST00000693155.1:n.2932C>T (MRPS22) | ||
| ENST00000310776.9:c.875+1377C>T (MRPS22) | ENSP00000310785.5:n.875+1377C>T | |
| ENST00000502734.2:n.6092G>A (COPB2) | ||
| ENST00000503326.6:c.*1509G>A (COPB2) | ENSP00000426682.2:n.*1509G>A | |
| ENST00000677073.1:c.*6377G>A (COPB2) | ENSP00000504033.1:n.*6377G>A | |
| ENST00000677309.1:c.*5414G>A (COPB2) | ENSP00000503548.1:n.*5414G>A | |
| ENST00000677601.1:c.*5624G>A (COPB2) | ENSP00000503393.1:n.*5624G>A | |
| ENST00000677882.1:n.12363G>A (COPB2) | ||
| ENST00000680020.1:c.878+1377C>T (MRPS22) MANE Select | ENSP00000505414.1:n.878+1377C>T | |
| ENST00000310776.8:c.878+1377C>T (MRPS22) | ENSP00000310785.4:n.878+1377C>T | |
| ENST00000465056.5:c.875+1377C>T (MRPS22) | ENSP00000418233.1:n.875+1377C>T | |
| ENST00000478464.5:c.755+1377C>T (MRPS22) | ENSP00000419303.1:n.755+1377C>T | |
| ENST00000480938.5:n.1532+1377C>T (MRPS22) | ||
| ENST00000492644.1:n.1923+1377C>T (MRPS22) | ||
| ENST00000495075.5:c.878+1377C>T (MRPS22) | ENSP00000418008.1:n.878+1377C>T | |
| ENST00000498505.5:c.*475+1377C>T (MRPS22) | ENSP00000420482.1:n.*475+1377C>T | |
| NM_020191.2:c.878+1377C>T (MRPS22) | NP_064576.1:n.878+1377C>T | |
| XM_005247640.2:c.875+1377C>T (MRPS22) | XP_005247697.1:n.875+1377C>T | |
| XM_006713703.2:c.824+1377C>T (MRPS22) | XP_006713766.1:n.824+1377C>T | |
| XM_011512995.1:c.755+1377C>T (MRPS22) | XP_011511297.1:n.755+1377C>T | |
| XM_011512996.1:c.752+1377C>T (MRPS22) | XP_011511298.1:n.752+1377C>T | |
| NM_001363857.1:c.755+1377C>T (MRPS22) | NP_001350786.1:n.755+1377C>T | |
| NM_001363893.1:c.875+1377C>T (MRPS22) | NP_001350822.1:n.875+1377C>T | |
| NM_020191.3:c.878+1377C>T (MRPS22) | NP_064576.1:n.878+1377C>T | |
| XM_006713703.4:c.824+1377C>T (MRPS22) | XP_006713766.1:n.824+1377C>T | |
| XM_011512996.2:c.752+1377C>T (MRPS22) | XP_011511298.1:n.752+1377C>T | |
| NM_020191.4:c.878+1377C>T (MRPS22) MANE Select | NP_064576.1:n.878+1377C>T |