Linked Data
ClinVar Variation Id:
535138
dbSNP Id:
rs116765281
ExAC:
2:179475902 G / A
gnomAD v2:
2-179475902-G-A
gnomAD v3:
2-178611175-G-A
gnomAD v4:
2-178611175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611175G>A , CM000664.2:g.178611175G>A | GRCh38 |
| NC_000002.11:g.179475902G>A , CM000664.1:g.179475902G>A | GRCh37 |
| NC_000002.10:g.179184147G>A | NCBI36 |
| NG_011618.3:g.224628C>T , LRG_391:g.224628C>T | |
| NG_051363.1:g.93349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43250C>T (TTN) | ENSP00000343764.6:p.Thr14417Ile | |
| ENST00000342175.11:c.24335C>T (TTN) | ENSP00000340554.6:p.Thr8112Ile | |
| ENST00000359218.10:c.24134C>T (TTN) | ENSP00000352154.5:p.Thr8045Ile | |
| ENST00000342175.10:c.24335C>T (TTN) | ENSP00000340554.6:p.Thr8112Ile | |
| ENST00000342992.10:c.43250C>T (TTN) | ENSP00000343764.6:p.Thr14417Ile | |
| ENST00000359218.9:c.24134C>T (TTN) | ENSP00000352154.5:p.Thr8045Ile | |
| ENST00000460472.6:c.23759C>T (TTN) | ENSP00000434586.1:p.Thr7920Ile | |
| ENST00000589042.5:c.50954C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16985Ile | |
| ENST00000591111.5:c.46031C>T (TTN) | ENSP00000465570.1:p.Thr15344Ile | |
| ENST00000615779.4:c.46031C>T (TTN) | ENSP00000483597.1:p.Thr15344Ile | |
| NM_001256850.1:c.46031C>T (TTN) | NP_001243779.1:p.Thr15344Ile | |
| NM_001267550.2:c.50954C>T (TTN) MANE Select | NP_001254479.2:p.Thr16985Ile | |
| NM_003319.4:c.23759C>T (TTN) | NP_003310.4:p.Thr7920Ile | |
| NM_133378.4:c.43250C>T (TTN) | NP_596869.4:p.Thr14417Ile | |
| NM_133432.3:c.24134C>T (TTN) | NP_597676.3:p.Thr8045Ile | |
| NM_133437.4:c.24335C>T (TTN) | NP_597681.4:p.Thr8112Ile | |
| NR_038271.1:n.783-2860G>A (TTN-AS1) | ||
| XM_011511729.1:c.50051C>T (TTN) | XP_011510031.1:p.Thr16684Ile | |
| XM_011511730.1:c.23945C>T (TTN) | XP_011510032.1:p.Thr7982Ile | |
| XM_011511731.1:c.23804C>T (TTN) | XP_011510033.1:p.Thr7935Ile | |
| XM_017004819.1:c.49847C>T (TTN) | XP_016860308.1:p.Thr16616Ile | |
| XM_017004820.1:c.45245C>T (TTN) | XP_016860309.1:p.Thr15082Ile | |
| XM_017004821.1:c.45242C>T (TTN) | XP_016860310.1:p.Thr15081Ile | |
| XM_017004822.1:c.42284C>T (TTN) | XP_016860311.1:p.Thr14095Ile | |
| XM_017004823.1:c.23900C>T (TTN) | XP_016860312.1:p.Thr7967Ile | |
| XM_024453094.1:c.45395C>T (TTN) | XP_024308862.1:p.Thr15132Ile | |
| XM_024453095.1:c.45392C>T (TTN) | XP_024308863.1:p.Thr15131Ile | |
| XM_024453096.1:c.44825C>T (TTN) | XP_024308864.1:p.Thr14942Ile | |
| XM_024453097.1:c.42167C>T (TTN) | XP_024308865.1:p.Thr14056Ile | |
| XM_024453098.1:c.42086C>T (TTN) | XP_024308866.1:p.Thr14029Ile | |
| XM_024453099.1:c.23849C>T (TTN) | XP_024308867.1:p.Thr7950Ile | |
| XM_024453100.1:c.13703C>T (TTN) | XP_024308868.1:p.Thr4568Ile |