Linked Data
ClinVar Variation Id:
1761050
dbSNP Id:
rs910216145
gnomAD v2:
2-179395234-T-C
gnomAD v3:
2-178530507-T-C
gnomAD v4:
2-178530507-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530507T>C , CM000664.2:g.178530507T>C | GRCh38 |
| NC_000002.11:g.179395234T>C , CM000664.1:g.179395234T>C | GRCh37 |
| NC_000002.10:g.179103480T>C | NCBI36 |
| NG_011618.3:g.305296A>G , LRG_391:g.305296A>G | |
| NG_051363.1:g.12681T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98404A>G (TTN) | ENSP00000343764.6:p.Thr32802Ala | |
| ENST00000342175.11:c.79489A>G (TTN) | ENSP00000340554.6:p.Thr26497Ala | |
| ENST00000359218.10:c.79288A>G (TTN) | ENSP00000352154.5:p.Thr26430Ala | |
| ENST00000342175.10:c.79489A>G (TTN) | ENSP00000340554.6:p.Thr26497Ala | |
| ENST00000342992.10:c.98404A>G (TTN) | ENSP00000343764.6:p.Thr32802Ala | |
| ENST00000359218.9:c.79288A>G (TTN) | ENSP00000352154.5:p.Thr26430Ala | |
| ENST00000460472.6:c.78913A>G (TTN) | ENSP00000434586.1:p.Thr26305Ala | |
| ENST00000589042.5:c.106108A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr35370Ala | |
| ENST00000591111.5:c.101185A>G (TTN) | ENSP00000465570.1:p.Thr33729Ala | |
| ENST00000615779.4:c.101185A>G (TTN) | ENSP00000483597.1:p.Thr33729Ala | |
| NM_001256850.1:c.101185A>G (TTN) | NP_001243779.1:p.Thr33729Ala | |
| NM_001267550.2:c.106108A>G (TTN) MANE Select | NP_001254479.2:p.Thr35370Ala | |
| NM_003319.4:c.78913A>G (TTN) | NP_003310.4:p.Thr26305Ala | |
| NM_133378.4:c.98404A>G (TTN) | NP_596869.4:p.Thr32802Ala | |
| NM_133432.3:c.79288A>G (TTN) | NP_597676.3:p.Thr26430Ala | |
| NM_133437.4:c.79489A>G (TTN) | NP_597681.4:p.Thr26497Ala | |
| NR_038271.1:n.446+6871T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5225T>C (TTN-AS1) | ||
| XM_011511729.1:c.105205A>G (TTN) | XP_011510031.1:p.Thr35069Ala | |
| XM_011511730.1:c.79099A>G (TTN) | XP_011510032.1:p.Thr26367Ala | |
| XM_011511731.1:c.78958A>G (TTN) | XP_011510033.1:p.Thr26320Ala | |
| XM_017004819.1:c.105001A>G (TTN) | XP_016860308.1:p.Thr35001Ala | |
| XM_017004820.1:c.100399A>G (TTN) | XP_016860309.1:p.Thr33467Ala | |
| XM_017004821.1:c.100396A>G (TTN) | XP_016860310.1:p.Thr33466Ala | |
| XM_017004822.1:c.97438A>G (TTN) | XP_016860311.1:p.Thr32480Ala | |
| XM_017004823.1:c.79054A>G (TTN) | XP_016860312.1:p.Thr26352Ala | |
| XM_024453094.1:c.100549A>G (TTN) | XP_024308862.1:p.Thr33517Ala | |
| XM_024453095.1:c.100546A>G (TTN) | XP_024308863.1:p.Thr33516Ala | |
| XM_024453096.1:c.99979A>G (TTN) | XP_024308864.1:p.Thr33327Ala | |
| XM_024453097.1:c.97321A>G (TTN) | XP_024308865.1:p.Thr32441Ala | |
| XM_024453098.1:c.97240A>G (TTN) | XP_024308866.1:p.Thr32414Ala | |
| XM_024453099.1:c.79003A>G (TTN) | XP_024308867.1:p.Thr26335Ala | |
| XM_024453100.1:c.68857A>G (TTN) | XP_024308868.1:p.Thr22953Ala |