Linked Data
ClinVar Variation Id:
379749
ClinVar RCV Id:
RCV000437070
RCV001136291
RCV001129309
RCV001129310
RCV001129311
RCV001129312
RCV001288118
RCV000544867
RCV000617243
dbSNP Id:
rs573218266
ExAC:
2:179483052 T / C
gnomAD v2:
2-179483052-T-C
gnomAD v3:
2-178618325-T-C
gnomAD v4:
2-178618325-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618325T>C , CM000664.2:g.178618325T>C | GRCh38 |
| NC_000002.11:g.179483052T>C , CM000664.1:g.179483052T>C | GRCh37 |
| NC_000002.10:g.179191297T>C | NCBI36 |
| NG_011618.3:g.217478A>G , LRG_391:g.217478A>G | |
| NG_051363.1:g.100499T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39429A>G (TTN) | ENSP00000343764.6:p.Ala13143= | |
| ENST00000342175.11:c.20514A>G (TTN) | ENSP00000340554.6:p.Ala6838= | |
| ENST00000359218.10:c.20313A>G (TTN) | ENSP00000352154.5:p.Ala6771= | |
| ENST00000342175.10:c.20514A>G (TTN) | ENSP00000340554.6:p.Ala6838= | |
| ENST00000342992.10:c.39429A>G (TTN) | ENSP00000343764.6:p.Ala13143= | |
| ENST00000359218.9:c.20313A>G (TTN) | ENSP00000352154.5:p.Ala6771= | |
| ENST00000460472.6:c.19938A>G (TTN) | ENSP00000434586.1:p.Ala6646= | |
| ENST00000589042.5:c.47133A>G (TTN) MANE Select | ENSP00000467141.1:p.Ala15711= | |
| ENST00000591111.5:c.42210A>G (TTN) | ENSP00000465570.1:p.Ala14070= | |
| ENST00000615779.4:c.42210A>G (TTN) | ENSP00000483597.1:p.Ala14070= | |
| NM_001256850.1:c.42210A>G (TTN) | NP_001243779.1:p.Ala14070= | |
| NM_001267550.2:c.47133A>G (TTN) MANE Select | NP_001254479.2:p.Ala15711= | |
| NM_003319.4:c.19938A>G (TTN) | NP_003310.4:p.Ala6646= | |
| NM_133378.4:c.39429A>G (TTN) | NP_596869.4:p.Ala13143= | |
| NM_133432.3:c.20313A>G (TTN) | NP_597676.3:p.Ala6771= | |
| NM_133437.4:c.20514A>G (TTN) | NP_597681.4:p.Ala6838= | |
| NR_038271.1:n.1605-1428T>C (TTN-AS1) | ||
| XM_011511729.1:c.46230A>G (TTN) | XP_011510031.1:p.Ala15410= | |
| XM_011511730.1:c.20124A>G (TTN) | XP_011510032.1:p.Ala6708= | |
| XM_011511731.1:c.19983A>G (TTN) | XP_011510033.1:p.Ala6661= | |
| XM_017004819.1:c.46026A>G (TTN) | XP_016860308.1:p.Ala15342= | |
| XM_017004820.1:c.41424A>G (TTN) | XP_016860309.1:p.Ala13808= | |
| XM_017004821.1:c.41421A>G (TTN) | XP_016860310.1:p.Ala13807= | |
| XM_017004822.1:c.38463A>G (TTN) | XP_016860311.1:p.Ala12821= | |
| XM_017004823.1:c.20079A>G (TTN) | XP_016860312.1:p.Ala6693= | |
| XM_024453094.1:c.41574A>G (TTN) | XP_024308862.1:p.Ala13858= | |
| XM_024453095.1:c.41571A>G (TTN) | XP_024308863.1:p.Ala13857= | |
| XM_024453096.1:c.41004A>G (TTN) | XP_024308864.1:p.Ala13668= | |
| XM_024453097.1:c.38346A>G (TTN) | XP_024308865.1:p.Ala12782= | |
| XM_024453098.1:c.38265A>G (TTN) | XP_024308866.1:p.Ala12755= | |
| XM_024453099.1:c.20028A>G (TTN) | XP_024308867.1:p.Ala6676= | |
| XM_024453100.1:c.9882A>G (TTN) | XP_024308868.1:p.Ala3294= |