Linked Data
ClinVar Variation Id:
165991
dbSNP Id:
rs200387466
ExAC:
2:179472360 C / T
gnomAD v2:
2-179472360-C-T
gnomAD v3:
2-178607633-C-T
gnomAD v4:
2-178607633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607633C>T , CM000664.2:g.178607633C>T | GRCh38 |
| NC_000002.11:g.179472360C>T , CM000664.1:g.179472360C>T | GRCh37 |
| NC_000002.10:g.179180605C>T | NCBI36 |
| NG_011618.3:g.228170G>A , LRG_391:g.228170G>A | |
| NG_051363.1:g.89807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45351G>A (TTN) | ENSP00000343764.6:p.Met15117Ile | |
| ENST00000342175.11:c.26436G>A (TTN) | ENSP00000340554.6:p.Met8812Ile | |
| ENST00000359218.10:c.26235G>A (TTN) | ENSP00000352154.5:p.Met8745Ile | |
| ENST00000342175.10:c.26436G>A (TTN) | ENSP00000340554.6:p.Met8812Ile | |
| ENST00000342992.10:c.45351G>A (TTN) | ENSP00000343764.6:p.Met15117Ile | |
| ENST00000359218.9:c.26235G>A (TTN) | ENSP00000352154.5:p.Met8745Ile | |
| ENST00000460472.6:c.25860G>A (TTN) | ENSP00000434586.1:p.Met8620Ile | |
| ENST00000589042.5:c.53055G>A (TTN) MANE Select | ENSP00000467141.1:p.Met17685Ile | |
| ENST00000591111.5:c.48132G>A (TTN) | ENSP00000465570.1:p.Met16044Ile | |
| ENST00000615779.4:c.48132G>A (TTN) | ENSP00000483597.1:p.Met16044Ile | |
| NM_001256850.1:c.48132G>A (TTN) | NP_001243779.1:p.Met16044Ile | |
| NM_001267550.2:c.53055G>A (TTN) MANE Select | NP_001254479.2:p.Met17685Ile | |
| NM_003319.4:c.25860G>A (TTN) | NP_003310.4:p.Met8620Ile | |
| NM_133378.4:c.45351G>A (TTN) | NP_596869.4:p.Met15117Ile | |
| NM_133432.3:c.26235G>A (TTN) | NP_597676.3:p.Met8745Ile | |
| NM_133437.4:c.26436G>A (TTN) | NP_597681.4:p.Met8812Ile | |
| NR_038271.1:n.683-534C>T (TTN-AS1) | ||
| XM_011511729.1:c.52152G>A (TTN) | XP_011510031.1:p.Met17384Ile | |
| XM_011511730.1:c.26046G>A (TTN) | XP_011510032.1:p.Met8682Ile | |
| XM_011511731.1:c.25905G>A (TTN) | XP_011510033.1:p.Met8635Ile | |
| XM_017004819.1:c.51948G>A (TTN) | XP_016860308.1:p.Met17316Ile | |
| XM_017004820.1:c.47346G>A (TTN) | XP_016860309.1:p.Met15782Ile | |
| XM_017004821.1:c.47343G>A (TTN) | XP_016860310.1:p.Met15781Ile | |
| XM_017004822.1:c.44385G>A (TTN) | XP_016860311.1:p.Met14795Ile | |
| XM_017004823.1:c.26001G>A (TTN) | XP_016860312.1:p.Met8667Ile | |
| XM_024453094.1:c.47496G>A (TTN) | XP_024308862.1:p.Met15832Ile | |
| XM_024453095.1:c.47493G>A (TTN) | XP_024308863.1:p.Met15831Ile | |
| XM_024453096.1:c.46926G>A (TTN) | XP_024308864.1:p.Met15642Ile | |
| XM_024453097.1:c.44268G>A (TTN) | XP_024308865.1:p.Met14756Ile | |
| XM_024453098.1:c.44187G>A (TTN) | XP_024308866.1:p.Met14729Ile | |
| XM_024453099.1:c.25950G>A (TTN) | XP_024308867.1:p.Met8650Ile | |
| XM_024453100.1:c.15804G>A (TTN) | XP_024308868.1:p.Met5268Ile |