Linked Data
ClinVar Variation Id:
47564
dbSNP Id:
rs375640847
ExAC:
2:179408731 G / A
gnomAD v2:
2-179408731-G-A
gnomAD v3:
2-178544004-G-A
gnomAD v4:
2-178544004-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544004G>A , CM000664.2:g.178544004G>A | GRCh38 |
| NC_000002.11:g.179408731G>A , CM000664.1:g.179408731G>A | GRCh37 |
| NC_000002.10:g.179116977G>A | NCBI36 |
| NG_011618.3:g.291799C>T , LRG_391:g.291799C>T | |
| NG_051363.1:g.26178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88436C>T (TTN) | ENSP00000343764.6:p.Thr29479Met | |
| ENST00000342175.11:c.69521C>T (TTN) | ENSP00000340554.6:p.Thr23174Met | |
| ENST00000359218.10:c.69320C>T (TTN) | ENSP00000352154.5:p.Thr23107Met | |
| ENST00000342175.10:c.69521C>T (TTN) | ENSP00000340554.6:p.Thr23174Met | |
| ENST00000342992.10:c.88436C>T (TTN) | ENSP00000343764.6:p.Thr29479Met | |
| ENST00000359218.9:c.69320C>T (TTN) | ENSP00000352154.5:p.Thr23107Met | |
| ENST00000460472.6:c.68945C>T (TTN) | ENSP00000434586.1:p.Thr22982Met | |
| ENST00000589042.5:c.96140C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr32047Met | |
| ENST00000591111.5:c.91217C>T (TTN) | ENSP00000465570.1:p.Thr30406Met | |
| ENST00000615779.4:c.91217C>T (TTN) | ENSP00000483597.1:p.Thr30406Met | |
| NM_001256850.1:c.91217C>T (TTN) | NP_001243779.1:p.Thr30406Met | |
| NM_001267550.2:c.96140C>T (TTN) MANE Select | NP_001254479.2:p.Thr32047Met | |
| NM_003319.4:c.68945C>T (TTN) | NP_003310.4:p.Thr22982Met | |
| NM_133378.4:c.88436C>T (TTN) | NP_596869.4:p.Thr29479Met | |
| NM_133432.3:c.69320C>T (TTN) | NP_597676.3:p.Thr23107Met | |
| NM_133437.4:c.69521C>T (TTN) | NP_597681.4:p.Thr23174Met | |
| NR_038271.1:n.446+20368G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1643G>A (TTN-AS1) | ||
| XM_011511729.1:c.95237C>T (TTN) | XP_011510031.1:p.Thr31746Met | |
| XM_011511730.1:c.69131C>T (TTN) | XP_011510032.1:p.Thr23044Met | |
| XM_011511731.1:c.68990C>T (TTN) | XP_011510033.1:p.Thr22997Met | |
| XM_017004819.1:c.95033C>T (TTN) | XP_016860308.1:p.Thr31678Met | |
| XM_017004820.1:c.90431C>T (TTN) | XP_016860309.1:p.Thr30144Met | |
| XM_017004821.1:c.90428C>T (TTN) | XP_016860310.1:p.Thr30143Met | |
| XM_017004822.1:c.87470C>T (TTN) | XP_016860311.1:p.Thr29157Met | |
| XM_017004823.1:c.69086C>T (TTN) | XP_016860312.1:p.Thr23029Met | |
| XM_024453094.1:c.90581C>T (TTN) | XP_024308862.1:p.Thr30194Met | |
| XM_024453095.1:c.90578C>T (TTN) | XP_024308863.1:p.Thr30193Met | |
| XM_024453096.1:c.90011C>T (TTN) | XP_024308864.1:p.Thr30004Met | |
| XM_024453097.1:c.87353C>T (TTN) | XP_024308865.1:p.Thr29118Met | |
| XM_024453098.1:c.87272C>T (TTN) | XP_024308866.1:p.Thr29091Met | |
| XM_024453099.1:c.69035C>T (TTN) | XP_024308867.1:p.Thr23012Met | |
| XM_024453100.1:c.58889C>T (TTN) | XP_024308868.1:p.Thr19630Met |