Linked Data
ClinVar Variation Id:
1225402
ClinVar RCV Id:
RCV001610968
dbSNP Id:
rs12537
gnomAD v2:
22-30423460-C-T
gnomAD v3:
22-30027471-C-T
gnomAD v4:
22-30027471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30027471C>T , CM000684.2:g.30027471C>T | GRCh38 |
| NC_000022.10:g.30423460C>T , CM000684.1:g.30423460C>T | GRCh37 |
| NC_000022.9:g.28753460C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401950.7:c.*1670C>T (MTMR3) MANE Select | ENSP00000384651.3:n.*1670C>T | |
| ENST00000323630.9:c.*1670C>T (MTMR3) | ENSP00000318070.5:n.*1670C>T | |
| ENST00000333027.7:c.*1670C>T (MTMR3) | ENSP00000331649.3:n.*1670C>T | |
| ENST00000401950.6:c.*1670C>T (MTMR3) | ENSP00000384651.2:n.*1670C>T | |
| NM_021090.3:c.*1670C>T (MTMR3) | NP_066576.1:n.*1670C>T | |
| NM_153050.2:c.*1670C>T (MTMR3) | NP_694690.1:n.*1670C>T | |
| NM_153051.2:c.*1670C>T (MTMR3) | NP_694691.1:n.*1670C>T | |
| NR_110541.1:n.585-8742G>A (HORMAD2-AS1) | ||
| XM_005261803.1:c.*1670C>T (MTMR3) | XP_005261860.1:n.*1670C>T | |
| XM_005261804.2:c.*1670C>T (MTMR3) | XP_005261861.1:n.*1670C>T | |
| XM_005261805.1:c.*1670C>T (MTMR3) | XP_005261862.1:n.*1670C>T | |
| XM_005261806.1:c.*1670C>T (MTMR3) | XP_005261863.1:n.*1670C>T | |
| XM_005261807.1:c.*1670C>T (MTMR3) | XP_005261864.1:n.*1670C>T | |
| XM_005261808.1:c.*1670C>T (MTMR3) | XP_005261865.1:n.*1670C>T | |
| XM_005261809.3:c.*1670C>T (MTMR3) | XP_005261866.1:n.*1670C>T | |
| XM_005261803.2:c.*1670C>T (MTMR3) | XP_005261860.1:n.*1670C>T | |
| XM_005261804.3:c.*1670C>T (MTMR3) | XP_005261861.1:n.*1670C>T | |
| XM_005261805.2:c.*1670C>T (MTMR3) | XP_005261862.1:n.*1670C>T | |
| XM_005261806.2:c.*1670C>T (MTMR3) | XP_005261863.1:n.*1670C>T | |
| XM_005261808.3:c.*1670C>T (MTMR3) | XP_005261865.1:n.*1670C>T | |
| XM_017029028.1:c.*1670C>T (MTMR3) | XP_016884517.1:n.*1670C>T | |
| XM_017029029.1:c.*1670C>T (MTMR3) | XP_016884518.1:n.*1670C>T | |
| XM_017029030.1:c.*1670C>T (MTMR3) | XP_016884519.1:n.*1670C>T | |
| XM_017029031.1:c.*1670C>T (MTMR3) | XP_016884520.1:n.*1670C>T | |
| XM_017029032.1:c.*1670C>T (MTMR3) | XP_016884521.1:n.*1670C>T | |
| XM_017029033.1:c.*1670C>T (MTMR3) | XP_016884522.1:n.*1670C>T | |
| XM_017029034.1:c.*1670C>T (MTMR3) | XP_016884523.1:n.*1670C>T | |
| NM_021090.4:c.*1670C>T (MTMR3) MANE Select | NP_066576.1:n.*1670C>T | |
| NM_153051.3:c.*1670C>T (MTMR3) | NP_694691.1:n.*1670C>T | |
| NR_110541.2:n.362-8742G>A (HORMAD2-AS1) | ||
| NM_153050.3:c.*1670C>T (MTMR3) | NP_694690.1:n.*1670C>T |