Linked Data
ClinVar Variation Id:
535503
dbSNP Id:
rs377463445
ExAC:
2:179394795 A / T
gnomAD v2:
2-179394795-A-T
gnomAD v3:
2-178530068-A-T
gnomAD v4:
2-178530068-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530068A>T , CM000664.2:g.178530068A>T | GRCh38 |
| NC_000002.11:g.179394795A>T , CM000664.1:g.179394795A>T | GRCh37 |
| NC_000002.10:g.179103041A>T | NCBI36 |
| NG_011618.3:g.305735T>A , LRG_391:g.305735T>A | |
| NG_051363.1:g.12242A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98719T>A (TTN) | ENSP00000343764.6:p.Phe32907Ile | |
| ENST00000342175.11:c.79804T>A (TTN) | ENSP00000340554.6:p.Phe26602Ile | |
| ENST00000359218.10:c.79603T>A (TTN) | ENSP00000352154.5:p.Phe26535Ile | |
| ENST00000342175.10:c.79804T>A (TTN) | ENSP00000340554.6:p.Phe26602Ile | |
| ENST00000342992.10:c.98719T>A (TTN) | ENSP00000343764.6:p.Phe32907Ile | |
| ENST00000359218.9:c.79603T>A (TTN) | ENSP00000352154.5:p.Phe26535Ile | |
| ENST00000460472.6:c.79228T>A (TTN) | ENSP00000434586.1:p.Phe26410Ile | |
| ENST00000589042.5:c.106423T>A (TTN) MANE Select | ENSP00000467141.1:p.Phe35475Ile | |
| ENST00000591111.5:c.101500T>A (TTN) | ENSP00000465570.1:p.Phe33834Ile | |
| ENST00000615779.4:c.101500T>A (TTN) | ENSP00000483597.1:p.Phe33834Ile | |
| NM_001256850.1:c.101500T>A (TTN) | NP_001243779.1:p.Phe33834Ile | |
| NM_001267550.2:c.106423T>A (TTN) MANE Select | NP_001254479.2:p.Phe35475Ile | |
| NM_003319.4:c.79228T>A (TTN) | NP_003310.4:p.Phe26410Ile | |
| NM_133378.4:c.98719T>A (TTN) | NP_596869.4:p.Phe32907Ile | |
| NM_133432.3:c.79603T>A (TTN) | NP_597676.3:p.Phe26535Ile | |
| NM_133437.4:c.79804T>A (TTN) | NP_597681.4:p.Phe26602Ile | |
| NR_038271.1:n.446+6432A>T (TTN-AS1) | ||
| NR_038272.1:n.220-5664A>T (TTN-AS1) | ||
| XM_011511729.1:c.105520T>A (TTN) | XP_011510031.1:p.Phe35174Ile | |
| XM_011511730.1:c.79414T>A (TTN) | XP_011510032.1:p.Phe26472Ile | |
| XM_011511731.1:c.79273T>A (TTN) | XP_011510033.1:p.Phe26425Ile | |
| XM_017004819.1:c.105316T>A (TTN) | XP_016860308.1:p.Phe35106Ile | |
| XM_017004820.1:c.100714T>A (TTN) | XP_016860309.1:p.Phe33572Ile | |
| XM_017004821.1:c.100711T>A (TTN) | XP_016860310.1:p.Phe33571Ile | |
| XM_017004822.1:c.97753T>A (TTN) | XP_016860311.1:p.Phe32585Ile | |
| XM_017004823.1:c.79369T>A (TTN) | XP_016860312.1:p.Phe26457Ile | |
| XM_024453094.1:c.100864T>A (TTN) | XP_024308862.1:p.Phe33622Ile | |
| XM_024453095.1:c.100861T>A (TTN) | XP_024308863.1:p.Phe33621Ile | |
| XM_024453096.1:c.100294T>A (TTN) | XP_024308864.1:p.Phe33432Ile | |
| XM_024453097.1:c.97636T>A (TTN) | XP_024308865.1:p.Phe32546Ile | |
| XM_024453098.1:c.97555T>A (TTN) | XP_024308866.1:p.Phe32519Ile | |
| XM_024453099.1:c.79318T>A (TTN) | XP_024308867.1:p.Phe26440Ile | |
| XM_024453100.1:c.69172T>A (TTN) | XP_024308868.1:p.Phe23058Ile |