Linked Data
ClinVar Variation Id:
332732
dbSNP Id:
rs768528782
ExAC:
2:179416975 T / C
gnomAD v2:
2-179416975-T-C
gnomAD v3:
2-178552248-T-C
gnomAD v4:
2-178552248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552248T>C , CM000664.2:g.178552248T>C | GRCh38 |
| NC_000002.11:g.179416975T>C , CM000664.1:g.179416975T>C | GRCh37 |
| NC_000002.10:g.179125221T>C | NCBI36 |
| NG_011618.3:g.283555A>G , LRG_391:g.283555A>G | |
| NG_051363.1:g.34422T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82948A>G (TTN) | ENSP00000343764.6:p.Thr27650Ala | |
| ENST00000342175.11:c.64033A>G (TTN) | ENSP00000340554.6:p.Thr21345Ala | |
| ENST00000359218.10:c.63832A>G (TTN) | ENSP00000352154.5:p.Thr21278Ala | |
| ENST00000342175.10:c.64033A>G (TTN) | ENSP00000340554.6:p.Thr21345Ala | |
| ENST00000342992.10:c.82948A>G (TTN) | ENSP00000343764.6:p.Thr27650Ala | |
| ENST00000359218.9:c.63832A>G (TTN) | ENSP00000352154.5:p.Thr21278Ala | |
| ENST00000460472.6:c.63457A>G (TTN) | ENSP00000434586.1:p.Thr21153Ala | |
| ENST00000589042.5:c.90652A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr30218Ala | |
| ENST00000591111.5:c.85729A>G (TTN) | ENSP00000465570.1:p.Thr28577Ala | |
| ENST00000615779.4:c.85729A>G (TTN) | ENSP00000483597.1:p.Thr28577Ala | |
| NM_001256850.1:c.85729A>G (TTN) | NP_001243779.1:p.Thr28577Ala | |
| NM_001267550.2:c.90652A>G (TTN) MANE Select | NP_001254479.2:p.Thr30218Ala | |
| NM_003319.4:c.63457A>G (TTN) | NP_003310.4:p.Thr21153Ala | |
| NM_133378.4:c.82948A>G (TTN) | NP_596869.4:p.Thr27650Ala | |
| NM_133432.3:c.63832A>G (TTN) | NP_597676.3:p.Thr21278Ala | |
| NM_133437.4:c.64033A>G (TTN) | NP_597681.4:p.Thr21345Ala | |
| NR_038271.1:n.447-19052T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+9887T>C (TTN-AS1) | ||
| XM_011511729.1:c.89749A>G (TTN) | XP_011510031.1:p.Thr29917Ala | |
| XM_011511730.1:c.63643A>G (TTN) | XP_011510032.1:p.Thr21215Ala | |
| XM_011511731.1:c.63502A>G (TTN) | XP_011510033.1:p.Thr21168Ala | |
| XM_017004819.1:c.89545A>G (TTN) | XP_016860308.1:p.Thr29849Ala | |
| XM_017004820.1:c.84943A>G (TTN) | XP_016860309.1:p.Thr28315Ala | |
| XM_017004821.1:c.84940A>G (TTN) | XP_016860310.1:p.Thr28314Ala | |
| XM_017004822.1:c.81982A>G (TTN) | XP_016860311.1:p.Thr27328Ala | |
| XM_017004823.1:c.63598A>G (TTN) | XP_016860312.1:p.Thr21200Ala | |
| XM_024453094.1:c.85093A>G (TTN) | XP_024308862.1:p.Thr28365Ala | |
| XM_024453095.1:c.85090A>G (TTN) | XP_024308863.1:p.Thr28364Ala | |
| XM_024453096.1:c.84523A>G (TTN) | XP_024308864.1:p.Thr28175Ala | |
| XM_024453097.1:c.81865A>G (TTN) | XP_024308865.1:p.Thr27289Ala | |
| XM_024453098.1:c.81784A>G (TTN) | XP_024308866.1:p.Thr27262Ala | |
| XM_024453099.1:c.63547A>G (TTN) | XP_024308867.1:p.Thr21183Ala | |
| XM_024453100.1:c.53401A>G (TTN) | XP_024308868.1:p.Thr17801Ala |