Linked Data
ClinVar Variation Id:
167760
dbSNP Id:
rs201023432
ExAC:
2:179407592 A / G
gnomAD v2:
2-179407592-A-G
gnomAD v3:
2-178542865-A-G
gnomAD v4:
2-178542865-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542865A>G , CM000664.2:g.178542865A>G | GRCh38 |
| NC_000002.11:g.179407592A>G , CM000664.1:g.179407592A>G | GRCh37 |
| NC_000002.10:g.179115838A>G | NCBI36 |
| NG_011618.3:g.292938T>C , LRG_391:g.292938T>C | |
| NG_051363.1:g.25039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89285T>C (TTN) | ENSP00000343764.6:p.Ile29762Thr | |
| ENST00000342175.11:c.70370T>C (TTN) | ENSP00000340554.6:p.Ile23457Thr | |
| ENST00000359218.10:c.70169T>C (TTN) | ENSP00000352154.5:p.Ile23390Thr | |
| ENST00000342175.10:c.70370T>C (TTN) | ENSP00000340554.6:p.Ile23457Thr | |
| ENST00000342992.10:c.89285T>C (TTN) | ENSP00000343764.6:p.Ile29762Thr | |
| ENST00000359218.9:c.70169T>C (TTN) | ENSP00000352154.5:p.Ile23390Thr | |
| ENST00000460472.6:c.69794T>C (TTN) | ENSP00000434586.1:p.Ile23265Thr | |
| ENST00000589042.5:c.96989T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32330Thr | |
| ENST00000591111.5:c.92066T>C (TTN) | ENSP00000465570.1:p.Ile30689Thr | |
| ENST00000615779.4:c.92066T>C (TTN) | ENSP00000483597.1:p.Ile30689Thr | |
| NM_001256850.1:c.92066T>C (TTN) | NP_001243779.1:p.Ile30689Thr | |
| NM_001267550.2:c.96989T>C (TTN) MANE Select | NP_001254479.2:p.Ile32330Thr | |
| NM_003319.4:c.69794T>C (TTN) | NP_003310.4:p.Ile23265Thr | |
| NM_133378.4:c.89285T>C (TTN) | NP_596869.4:p.Ile29762Thr | |
| NM_133432.3:c.70169T>C (TTN) | NP_597676.3:p.Ile23390Thr | |
| NM_133437.4:c.70370T>C (TTN) | NP_597681.4:p.Ile23457Thr | |
| NR_038271.1:n.446+19229A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+504A>G (TTN-AS1) | ||
| XM_011511729.1:c.96086T>C (TTN) | XP_011510031.1:p.Ile32029Thr | |
| XM_011511730.1:c.69980T>C (TTN) | XP_011510032.1:p.Ile23327Thr | |
| XM_011511731.1:c.69839T>C (TTN) | XP_011510033.1:p.Ile23280Thr | |
| XM_017004819.1:c.95882T>C (TTN) | XP_016860308.1:p.Ile31961Thr | |
| XM_017004820.1:c.91280T>C (TTN) | XP_016860309.1:p.Ile30427Thr | |
| XM_017004821.1:c.91277T>C (TTN) | XP_016860310.1:p.Ile30426Thr | |
| XM_017004822.1:c.88319T>C (TTN) | XP_016860311.1:p.Ile29440Thr | |
| XM_017004823.1:c.69935T>C (TTN) | XP_016860312.1:p.Ile23312Thr | |
| XM_024453094.1:c.91430T>C (TTN) | XP_024308862.1:p.Ile30477Thr | |
| XM_024453095.1:c.91427T>C (TTN) | XP_024308863.1:p.Ile30476Thr | |
| XM_024453096.1:c.90860T>C (TTN) | XP_024308864.1:p.Ile30287Thr | |
| XM_024453097.1:c.88202T>C (TTN) | XP_024308865.1:p.Ile29401Thr | |
| XM_024453098.1:c.88121T>C (TTN) | XP_024308866.1:p.Ile29374Thr | |
| XM_024453099.1:c.69884T>C (TTN) | XP_024308867.1:p.Ile23295Thr | |
| XM_024453100.1:c.59738T>C (TTN) | XP_024308868.1:p.Ile19913Thr |