Linked Data
ClinVar Variation Id:
165678
dbSNP Id:
rs727503538
ExAC:
2:179403796 T / C
gnomAD v2:
2-179403796-T-C
gnomAD v3:
2-178539069-T-C
gnomAD v4:
2-178539069-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539069T>C , CM000664.2:g.178539069T>C | GRCh38 |
| NC_000002.11:g.179403796T>C , CM000664.1:g.179403796T>C | GRCh37 |
| NC_000002.10:g.179112042T>C | NCBI36 |
| NG_011618.3:g.296734A>G , LRG_391:g.296734A>G | |
| NG_051363.1:g.21243T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91162A>G (TTN) | ENSP00000343764.6:p.Met30388Val | |
| ENST00000342175.11:c.72247A>G (TTN) | ENSP00000340554.6:p.Met24083Val | |
| ENST00000359218.10:c.72046A>G (TTN) | ENSP00000352154.5:p.Met24016Val | |
| ENST00000342175.10:c.72247A>G (TTN) | ENSP00000340554.6:p.Met24083Val | |
| ENST00000342992.10:c.91162A>G (TTN) | ENSP00000343764.6:p.Met30388Val | |
| ENST00000359218.9:c.72046A>G (TTN) | ENSP00000352154.5:p.Met24016Val | |
| ENST00000460472.6:c.71671A>G (TTN) | ENSP00000434586.1:p.Met23891Val | |
| ENST00000589042.5:c.98866A>G (TTN) MANE Select | ENSP00000467141.1:p.Met32956Val | |
| ENST00000591111.5:c.93943A>G (TTN) | ENSP00000465570.1:p.Met31315Val | |
| ENST00000615779.4:c.93943A>G (TTN) | ENSP00000483597.1:p.Met31315Val | |
| NM_001256850.1:c.93943A>G (TTN) | NP_001243779.1:p.Met31315Val | |
| NM_001267550.2:c.98866A>G (TTN) MANE Select | NP_001254479.2:p.Met32956Val | |
| NM_003319.4:c.71671A>G (TTN) | NP_003310.4:p.Met23891Val | |
| NM_133378.4:c.91162A>G (TTN) | NP_596869.4:p.Met30388Val | |
| NM_133432.3:c.72046A>G (TTN) | NP_597676.3:p.Met24016Val | |
| NM_133437.4:c.72247A>G (TTN) | NP_597681.4:p.Met24083Val | |
| NR_038271.1:n.446+15433T>C (TTN-AS1) | ||
| NR_038272.1:n.1019T>C (TTN-AS1) | ||
| XM_011511729.1:c.97963A>G (TTN) | XP_011510031.1:p.Met32655Val | |
| XM_011511730.1:c.71857A>G (TTN) | XP_011510032.1:p.Met23953Val | |
| XM_011511731.1:c.71716A>G (TTN) | XP_011510033.1:p.Met23906Val | |
| XM_017004819.1:c.97759A>G (TTN) | XP_016860308.1:p.Met32587Val | |
| XM_017004820.1:c.93157A>G (TTN) | XP_016860309.1:p.Met31053Val | |
| XM_017004821.1:c.93154A>G (TTN) | XP_016860310.1:p.Met31052Val | |
| XM_017004822.1:c.90196A>G (TTN) | XP_016860311.1:p.Met30066Val | |
| XM_017004823.1:c.71812A>G (TTN) | XP_016860312.1:p.Met23938Val | |
| XM_024453094.1:c.93307A>G (TTN) | XP_024308862.1:p.Met31103Val | |
| XM_024453095.1:c.93304A>G (TTN) | XP_024308863.1:p.Met31102Val | |
| XM_024453096.1:c.92737A>G (TTN) | XP_024308864.1:p.Met30913Val | |
| XM_024453097.1:c.90079A>G (TTN) | XP_024308865.1:p.Met30027Val | |
| XM_024453098.1:c.89998A>G (TTN) | XP_024308866.1:p.Met30000Val | |
| XM_024453099.1:c.71761A>G (TTN) | XP_024308867.1:p.Met23921Val | |
| XM_024453100.1:c.61615A>G (TTN) | XP_024308868.1:p.Met20539Val |