Linked Data
ClinVar Variation Id:
202308
dbSNP Id:
rs794729239
gnomAD v3:
2-178611909-T-A
gnomAD v4:
2-178611909-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611909T>A , CM000664.2:g.178611909T>A | GRCh38 |
| NC_000002.11:g.179476636T>A , CM000664.1:g.179476636T>A | GRCh37 |
| NC_000002.10:g.179184881T>A | NCBI36 |
| NG_011618.3:g.223894A>T , LRG_391:g.223894A>T | |
| NG_051363.1:g.94083T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42696A>T (TTN) | ENSP00000343764.6:p.Lys14232Asn | |
| ENST00000342175.11:c.23781A>T (TTN) | ENSP00000340554.6:p.Lys7927Asn | |
| ENST00000359218.10:c.23580A>T (TTN) | ENSP00000352154.5:p.Lys7860Asn | |
| ENST00000342175.10:c.23781A>T (TTN) | ENSP00000340554.6:p.Lys7927Asn | |
| ENST00000342992.10:c.42696A>T (TTN) | ENSP00000343764.6:p.Lys14232Asn | |
| ENST00000359218.9:c.23580A>T (TTN) | ENSP00000352154.5:p.Lys7860Asn | |
| ENST00000460472.6:c.23205A>T (TTN) | ENSP00000434586.1:p.Lys7735Asn | |
| ENST00000589042.5:c.50400A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys16800Asn | |
| ENST00000591111.5:c.45477A>T (TTN) | ENSP00000465570.1:p.Lys15159Asn | |
| ENST00000615779.4:c.45477A>T (TTN) | ENSP00000483597.1:p.Lys15159Asn | |
| NM_001256850.1:c.45477A>T (TTN) | NP_001243779.1:p.Lys15159Asn | |
| NM_001267550.2:c.50400A>T (TTN) MANE Select | NP_001254479.2:p.Lys16800Asn | |
| NM_003319.4:c.23205A>T (TTN) | NP_003310.4:p.Lys7735Asn | |
| NM_133378.4:c.42696A>T (TTN) | NP_596869.4:p.Lys14232Asn | |
| NM_133432.3:c.23580A>T (TTN) | NP_597676.3:p.Lys7860Asn | |
| NM_133437.4:c.23781A>T (TTN) | NP_597681.4:p.Lys7927Asn | |
| NR_038271.1:n.783-2126T>A (TTN-AS1) | ||
| XM_011511729.1:c.49497A>T (TTN) | XP_011510031.1:p.Lys16499Asn | |
| XM_011511730.1:c.23391A>T (TTN) | XP_011510032.1:p.Lys7797Asn | |
| XM_011511731.1:c.23250A>T (TTN) | XP_011510033.1:p.Lys7750Asn | |
| XM_017004819.1:c.49293A>T (TTN) | XP_016860308.1:p.Lys16431Asn | |
| XM_017004820.1:c.44691A>T (TTN) | XP_016860309.1:p.Lys14897Asn | |
| XM_017004821.1:c.44688A>T (TTN) | XP_016860310.1:p.Lys14896Asn | |
| XM_017004822.1:c.41730A>T (TTN) | XP_016860311.1:p.Lys13910Asn | |
| XM_017004823.1:c.23346A>T (TTN) | XP_016860312.1:p.Lys7782Asn | |
| XM_024453094.1:c.44841A>T (TTN) | XP_024308862.1:p.Lys14947Asn | |
| XM_024453095.1:c.44838A>T (TTN) | XP_024308863.1:p.Lys14946Asn | |
| XM_024453096.1:c.44271A>T (TTN) | XP_024308864.1:p.Lys14757Asn | |
| XM_024453097.1:c.41613A>T (TTN) | XP_024308865.1:p.Lys13871Asn | |
| XM_024453098.1:c.41532A>T (TTN) | XP_024308866.1:p.Lys13844Asn | |
| XM_024453099.1:c.23295A>T (TTN) | XP_024308867.1:p.Lys7765Asn | |
| XM_024453100.1:c.13149A>T (TTN) | XP_024308868.1:p.Lys4383Asn |