Linked Data
ClinVar Variation Id:
177978
ClinVar RCV Id:
RCV000154653
RCV000172658
RCV000251794
RCV000299433
RCV000356712
RCV000264643
RCV000298398
RCV000360237
RCV000400539
RCV001085015
RCV004534960
dbSNP Id:
rs140714512
ExAC:
2:179465706 A / T
gnomAD v2:
2-179465706-A-T
gnomAD v3:
2-178600979-A-T
gnomAD v4:
2-178600979-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178600979A>T , CM000664.2:g.178600979A>T | GRCh38 |
| NC_000002.11:g.179465706A>T , CM000664.1:g.179465706A>T | GRCh37 |
| NC_000002.10:g.179173951A>T | NCBI36 |
| NG_011618.3:g.234824T>A , LRG_391:g.234824T>A | |
| NG_051363.1:g.83153A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48221T>A (TTN) | ENSP00000343764.6:p.Leu16074Gln | |
| ENST00000342175.11:c.29306T>A (TTN) | ENSP00000340554.6:p.Leu9769Gln | |
| ENST00000359218.10:c.29105T>A (TTN) | ENSP00000352154.5:p.Leu9702Gln | |
| ENST00000342175.10:c.29306T>A (TTN) | ENSP00000340554.6:p.Leu9769Gln | |
| ENST00000342992.10:c.48221T>A (TTN) | ENSP00000343764.6:p.Leu16074Gln | |
| ENST00000359218.9:c.29105T>A (TTN) | ENSP00000352154.5:p.Leu9702Gln | |
| ENST00000460472.6:c.28730T>A (TTN) | ENSP00000434586.1:p.Leu9577Gln | |
| ENST00000589042.5:c.55925T>A (TTN) MANE Select | ENSP00000467141.1:p.Leu18642Gln | |
| ENST00000591111.5:c.51002T>A (TTN) | ENSP00000465570.1:p.Leu17001Gln | |
| ENST00000615779.4:c.51002T>A (TTN) | ENSP00000483597.1:p.Leu17001Gln | |
| NM_001256850.1:c.51002T>A (TTN) | NP_001243779.1:p.Leu17001Gln | |
| NM_001267550.2:c.55925T>A (TTN) MANE Select | NP_001254479.2:p.Leu18642Gln | |
| NM_003319.4:c.28730T>A (TTN) | NP_003310.4:p.Leu9577Gln | |
| NM_133378.4:c.48221T>A (TTN) | NP_596869.4:p.Leu16074Gln | |
| NM_133432.3:c.29105T>A (TTN) | NP_597676.3:p.Leu9702Gln | |
| NM_133437.4:c.29306T>A (TTN) | NP_597681.4:p.Leu9769Gln | |
| NR_038271.1:n.682+3298A>T (TTN-AS1) | ||
| NR_038272.1:n.3917+312A>T (TTN-AS1) | ||
| XM_011511729.1:c.55022T>A (TTN) | XP_011510031.1:p.Leu18341Gln | |
| XM_011511730.1:c.28916T>A (TTN) | XP_011510032.1:p.Leu9639Gln | |
| XM_011511731.1:c.28775T>A (TTN) | XP_011510033.1:p.Leu9592Gln | |
| XM_017004819.1:c.54818T>A (TTN) | XP_016860308.1:p.Leu18273Gln | |
| XM_017004820.1:c.50216T>A (TTN) | XP_016860309.1:p.Leu16739Gln | |
| XM_017004821.1:c.50213T>A (TTN) | XP_016860310.1:p.Leu16738Gln | |
| XM_017004822.1:c.47255T>A (TTN) | XP_016860311.1:p.Leu15752Gln | |
| XM_017004823.1:c.28871T>A (TTN) | XP_016860312.1:p.Leu9624Gln | |
| XM_024453094.1:c.50366T>A (TTN) | XP_024308862.1:p.Leu16789Gln | |
| XM_024453095.1:c.50363T>A (TTN) | XP_024308863.1:p.Leu16788Gln | |
| XM_024453096.1:c.49796T>A (TTN) | XP_024308864.1:p.Leu16599Gln | |
| XM_024453097.1:c.47138T>A (TTN) | XP_024308865.1:p.Leu15713Gln | |
| XM_024453098.1:c.47057T>A (TTN) | XP_024308866.1:p.Leu15686Gln | |
| XM_024453099.1:c.28820T>A (TTN) | XP_024308867.1:p.Leu9607Gln | |
| XM_024453100.1:c.18674T>A (TTN) | XP_024308868.1:p.Leu6225Gln |