Linked Data
ClinVar Variation Id:
229458
ClinVar RCV Id:
RCV000222321
RCV000550187
RCV000997454
RCV001136502
RCV001136503
RCV001136504
RCV001136505
RCV001136506
RCV002429076
dbSNP Id:
rs371538664
ExAC:
2:179472661 C / T
gnomAD v2:
2-179472661-C-T
gnomAD v3:
2-178607934-C-T
gnomAD v4:
2-178607934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607934C>T , CM000664.2:g.178607934C>T | GRCh38 |
| NC_000002.11:g.179472661C>T , CM000664.1:g.179472661C>T | GRCh37 |
| NC_000002.10:g.179180906C>T | NCBI36 |
| NG_011618.3:g.227869G>A , LRG_391:g.227869G>A | |
| NG_051363.1:g.90108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45149G>A (TTN) | ENSP00000343764.6:p.Arg15050His | |
| ENST00000342175.11:c.26234G>A (TTN) | ENSP00000340554.6:p.Arg8745His | |
| ENST00000359218.10:c.26033G>A (TTN) | ENSP00000352154.5:p.Arg8678His | |
| ENST00000342175.10:c.26234G>A (TTN) | ENSP00000340554.6:p.Arg8745His | |
| ENST00000342992.10:c.45149G>A (TTN) | ENSP00000343764.6:p.Arg15050His | |
| ENST00000359218.9:c.26033G>A (TTN) | ENSP00000352154.5:p.Arg8678His | |
| ENST00000460472.6:c.25658G>A (TTN) | ENSP00000434586.1:p.Arg8553His | |
| ENST00000589042.5:c.52853G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17618His | |
| ENST00000591111.5:c.47930G>A (TTN) | ENSP00000465570.1:p.Arg15977His | |
| ENST00000615779.4:c.47930G>A (TTN) | ENSP00000483597.1:p.Arg15977His | |
| NM_001256850.1:c.47930G>A (TTN) | NP_001243779.1:p.Arg15977His | |
| NM_001267550.2:c.52853G>A (TTN) MANE Select | NP_001254479.2:p.Arg17618His | |
| NM_003319.4:c.25658G>A (TTN) | NP_003310.4:p.Arg8553His | |
| NM_133378.4:c.45149G>A (TTN) | NP_596869.4:p.Arg15050His | |
| NM_133432.3:c.26033G>A (TTN) | NP_597676.3:p.Arg8678His | |
| NM_133437.4:c.26234G>A (TTN) | NP_597681.4:p.Arg8745His | |
| NR_038271.1:n.683-233C>T (TTN-AS1) | ||
| XM_011511729.1:c.51950G>A (TTN) | XP_011510031.1:p.Arg17317His | |
| XM_011511730.1:c.25844G>A (TTN) | XP_011510032.1:p.Arg8615His | |
| XM_011511731.1:c.25703G>A (TTN) | XP_011510033.1:p.Arg8568His | |
| XM_017004819.1:c.51746G>A (TTN) | XP_016860308.1:p.Arg17249His | |
| XM_017004820.1:c.47144G>A (TTN) | XP_016860309.1:p.Arg15715His | |
| XM_017004821.1:c.47141G>A (TTN) | XP_016860310.1:p.Arg15714His | |
| XM_017004822.1:c.44183G>A (TTN) | XP_016860311.1:p.Arg14728His | |
| XM_017004823.1:c.25799G>A (TTN) | XP_016860312.1:p.Arg8600His | |
| XM_024453094.1:c.47294G>A (TTN) | XP_024308862.1:p.Arg15765His | |
| XM_024453095.1:c.47291G>A (TTN) | XP_024308863.1:p.Arg15764His | |
| XM_024453096.1:c.46724G>A (TTN) | XP_024308864.1:p.Arg15575His | |
| XM_024453097.1:c.44066G>A (TTN) | XP_024308865.1:p.Arg14689His | |
| XM_024453098.1:c.43985G>A (TTN) | XP_024308866.1:p.Arg14662His | |
| XM_024453099.1:c.25748G>A (TTN) | XP_024308867.1:p.Arg8583His | |
| XM_024453100.1:c.15602G>A (TTN) | XP_024308868.1:p.Arg5201His |