Linked Data
ClinVar Variation Id:
179890
ClinVar RCV Id:
RCV000156691
dbSNP Id:
rs552683796
ExAC:
2:179409092 T / A
gnomAD v2:
2-179409092-T-A
gnomAD v3:
2-178544365-T-A
gnomAD v4:
2-178544365-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544365T>A , CM000664.2:g.178544365T>A | GRCh38 |
| NC_000002.11:g.179409092T>A , CM000664.1:g.179409092T>A | GRCh37 |
| NC_000002.10:g.179117338T>A | NCBI36 |
| NG_011618.3:g.291438A>T , LRG_391:g.291438A>T | |
| NG_051363.1:g.26539T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88160A>T (TTN) | ENSP00000343764.6:p.Gln29387Leu | |
| ENST00000342175.11:c.69245A>T (TTN) | ENSP00000340554.6:p.Gln23082Leu | |
| ENST00000359218.10:c.69044A>T (TTN) | ENSP00000352154.5:p.Gln23015Leu | |
| ENST00000342175.10:c.69245A>T (TTN) | ENSP00000340554.6:p.Gln23082Leu | |
| ENST00000342992.10:c.88160A>T (TTN) | ENSP00000343764.6:p.Gln29387Leu | |
| ENST00000359218.9:c.69044A>T (TTN) | ENSP00000352154.5:p.Gln23015Leu | |
| ENST00000460472.6:c.68669A>T (TTN) | ENSP00000434586.1:p.Gln22890Leu | |
| ENST00000589042.5:c.95864A>T (TTN) MANE Select | ENSP00000467141.1:p.Gln31955Leu | |
| ENST00000591111.5:c.90941A>T (TTN) | ENSP00000465570.1:p.Gln30314Leu | |
| ENST00000615779.4:c.90941A>T (TTN) | ENSP00000483597.1:p.Gln30314Leu | |
| NM_001256850.1:c.90941A>T (TTN) | NP_001243779.1:p.Gln30314Leu | |
| NM_001267550.2:c.95864A>T (TTN) MANE Select | NP_001254479.2:p.Gln31955Leu | |
| NM_003319.4:c.68669A>T (TTN) | NP_003310.4:p.Gln22890Leu | |
| NM_133378.4:c.88160A>T (TTN) | NP_596869.4:p.Gln29387Leu | |
| NM_133432.3:c.69044A>T (TTN) | NP_597676.3:p.Gln23015Leu | |
| NM_133437.4:c.69245A>T (TTN) | NP_597681.4:p.Gln23082Leu | |
| NR_038271.1:n.446+20729T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+2004T>A (TTN-AS1) | ||
| XM_011511729.1:c.94961A>T (TTN) | XP_011510031.1:p.Gln31654Leu | |
| XM_011511730.1:c.68855A>T (TTN) | XP_011510032.1:p.Gln22952Leu | |
| XM_011511731.1:c.68714A>T (TTN) | XP_011510033.1:p.Gln22905Leu | |
| XM_017004819.1:c.94757A>T (TTN) | XP_016860308.1:p.Gln31586Leu | |
| XM_017004820.1:c.90155A>T (TTN) | XP_016860309.1:p.Gln30052Leu | |
| XM_017004821.1:c.90152A>T (TTN) | XP_016860310.1:p.Gln30051Leu | |
| XM_017004822.1:c.87194A>T (TTN) | XP_016860311.1:p.Gln29065Leu | |
| XM_017004823.1:c.68810A>T (TTN) | XP_016860312.1:p.Gln22937Leu | |
| XM_024453094.1:c.90305A>T (TTN) | XP_024308862.1:p.Gln30102Leu | |
| XM_024453095.1:c.90302A>T (TTN) | XP_024308863.1:p.Gln30101Leu | |
| XM_024453096.1:c.89735A>T (TTN) | XP_024308864.1:p.Gln29912Leu | |
| XM_024453097.1:c.87077A>T (TTN) | XP_024308865.1:p.Gln29026Leu | |
| XM_024453098.1:c.86996A>T (TTN) | XP_024308866.1:p.Gln28999Leu | |
| XM_024453099.1:c.68759A>T (TTN) | XP_024308867.1:p.Gln22920Leu | |
| XM_024453100.1:c.58613A>T (TTN) | XP_024308868.1:p.Gln19538Leu |