Linked Data
ClinVar Variation Id:
96303
dbSNP Id:
rs199784966
ExAC:
2:179436263 T / C
gnomAD v2:
2-179436263-T-C
gnomAD v3:
2-178571536-T-C
gnomAD v4:
2-178571536-T-C
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571536T>C , CM000664.2:g.178571536T>C | GRCh38 |
| NC_000002.11:g.179436263T>C , CM000664.1:g.179436263T>C | GRCh37 |
| NC_000002.10:g.179144509T>C | NCBI36 |
| NG_011618.3:g.264267A>G , LRG_391:g.264267A>G | |
| NG_051363.1:g.53710T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66892A>G (TTN) | ENSP00000343764.6:p.Thr22298Ala | |
| ENST00000342175.11:c.47977A>G (TTN) | ENSP00000340554.6:p.Thr15993Ala | |
| ENST00000359218.10:c.47776A>G (TTN) | ENSP00000352154.5:p.Thr15926Ala | |
| ENST00000342175.10:c.47977A>G (TTN) | ENSP00000340554.6:p.Thr15993Ala | |
| ENST00000342992.10:c.66892A>G (TTN) | ENSP00000343764.6:p.Thr22298Ala | |
| ENST00000359218.9:c.47776A>G (TTN) | ENSP00000352154.5:p.Thr15926Ala | |
| ENST00000460472.6:c.47401A>G (TTN) | ENSP00000434586.1:p.Thr15801Ala | |
| ENST00000589042.5:c.74596A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr24866Ala | |
| ENST00000591111.5:c.69673A>G (TTN) | ENSP00000465570.1:p.Thr23225Ala | |
| ENST00000615779.4:c.69673A>G (TTN) | ENSP00000483597.1:p.Thr23225Ala | |
| NM_001256850.1:c.69673A>G (TTN) | NP_001243779.1:p.Thr23225Ala | |
| NM_001267550.2:c.74596A>G (TTN) MANE Select | NP_001254479.2:p.Thr24866Ala | |
| NM_003319.4:c.47401A>G (TTN) | NP_003310.4:p.Thr15801Ala | |
| NM_133378.4:c.66892A>G (TTN) | NP_596869.4:p.Thr22298Ala | |
| NM_133432.3:c.47776A>G (TTN) | NP_597676.3:p.Thr15926Ala | |
| NM_133437.4:c.47977A>G (TTN) | NP_597681.4:p.Thr15993Ala | |
| NR_038271.1:n.596+87T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-11036T>C (TTN-AS1) | ||
| XM_011511729.1:c.73693A>G (TTN) | XP_011510031.1:p.Thr24565Ala | |
| XM_011511730.1:c.47587A>G (TTN) | XP_011510032.1:p.Thr15863Ala | |
| XM_011511731.1:c.47446A>G (TTN) | XP_011510033.1:p.Thr15816Ala | |
| XM_017004819.1:c.73489A>G (TTN) | XP_016860308.1:p.Thr24497Ala | |
| XM_017004820.1:c.68887A>G (TTN) | XP_016860309.1:p.Thr22963Ala | |
| XM_017004821.1:c.68884A>G (TTN) | XP_016860310.1:p.Thr22962Ala | |
| XM_017004822.1:c.65926A>G (TTN) | XP_016860311.1:p.Thr21976Ala | |
| XM_017004823.1:c.47542A>G (TTN) | XP_016860312.1:p.Thr15848Ala | |
| XM_024453094.1:c.69037A>G (TTN) | XP_024308862.1:p.Thr23013Ala | |
| XM_024453095.1:c.69034A>G (TTN) | XP_024308863.1:p.Thr23012Ala | |
| XM_024453096.1:c.68467A>G (TTN) | XP_024308864.1:p.Thr22823Ala | |
| XM_024453097.1:c.65809A>G (TTN) | XP_024308865.1:p.Thr21937Ala | |
| XM_024453098.1:c.65728A>G (TTN) | XP_024308866.1:p.Thr21910Ala | |
| XM_024453099.1:c.47491A>G (TTN) | XP_024308867.1:p.Thr15831Ala | |
| XM_024453100.1:c.37345A>G (TTN) | XP_024308868.1:p.Thr12449Ala |