Linked Data
ClinVar Variation Id:
203029
dbSNP Id:
rs773555433
ExAC:
2:179407038 A / G
gnomAD v2:
2-179407038-A-G
gnomAD v4:
2-178542311-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542311A>G , CM000664.2:g.178542311A>G | GRCh38 |
| NC_000002.11:g.179407038A>G , CM000664.1:g.179407038A>G | GRCh37 |
| NC_000002.10:g.179115284A>G | NCBI36 |
| NG_011618.3:g.293492T>C , LRG_391:g.293492T>C | |
| NG_051363.1:g.24485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89741T>C (TTN) | ENSP00000343764.6:p.Ile29914Thr | |
| ENST00000342175.11:c.70826T>C (TTN) | ENSP00000340554.6:p.Ile23609Thr | |
| ENST00000359218.10:c.70625T>C (TTN) | ENSP00000352154.5:p.Ile23542Thr | |
| ENST00000342175.10:c.70826T>C (TTN) | ENSP00000340554.6:p.Ile23609Thr | |
| ENST00000342992.10:c.89741T>C (TTN) | ENSP00000343764.6:p.Ile29914Thr | |
| ENST00000359218.9:c.70625T>C (TTN) | ENSP00000352154.5:p.Ile23542Thr | |
| ENST00000460472.6:c.70250T>C (TTN) | ENSP00000434586.1:p.Ile23417Thr | |
| ENST00000589042.5:c.97445T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32482Thr | |
| ENST00000591111.5:c.92522T>C (TTN) | ENSP00000465570.1:p.Ile30841Thr | |
| ENST00000615779.4:c.92522T>C (TTN) | ENSP00000483597.1:p.Ile30841Thr | |
| NM_001256850.1:c.92522T>C (TTN) | NP_001243779.1:p.Ile30841Thr | |
| NM_001267550.2:c.97445T>C (TTN) MANE Select | NP_001254479.2:p.Ile32482Thr | |
| NM_003319.4:c.70250T>C (TTN) | NP_003310.4:p.Ile23417Thr | |
| NM_133378.4:c.89741T>C (TTN) | NP_596869.4:p.Ile29914Thr | |
| NM_133432.3:c.70625T>C (TTN) | NP_597676.3:p.Ile23542Thr | |
| NM_133437.4:c.70826T>C (TTN) | NP_597681.4:p.Ile23609Thr | |
| NR_038271.1:n.446+18675A>G (TTN-AS1) | ||
| NR_038272.1:n.1993A>G (TTN-AS1) | ||
| XM_011511729.1:c.96542T>C (TTN) | XP_011510031.1:p.Ile32181Thr | |
| XM_011511730.1:c.70436T>C (TTN) | XP_011510032.1:p.Ile23479Thr | |
| XM_011511731.1:c.70295T>C (TTN) | XP_011510033.1:p.Ile23432Thr | |
| XM_017004819.1:c.96338T>C (TTN) | XP_016860308.1:p.Ile32113Thr | |
| XM_017004820.1:c.91736T>C (TTN) | XP_016860309.1:p.Ile30579Thr | |
| XM_017004821.1:c.91733T>C (TTN) | XP_016860310.1:p.Ile30578Thr | |
| XM_017004822.1:c.88775T>C (TTN) | XP_016860311.1:p.Ile29592Thr | |
| XM_017004823.1:c.70391T>C (TTN) | XP_016860312.1:p.Ile23464Thr | |
| XM_024453094.1:c.91886T>C (TTN) | XP_024308862.1:p.Ile30629Thr | |
| XM_024453095.1:c.91883T>C (TTN) | XP_024308863.1:p.Ile30628Thr | |
| XM_024453096.1:c.91316T>C (TTN) | XP_024308864.1:p.Ile30439Thr | |
| XM_024453097.1:c.88658T>C (TTN) | XP_024308865.1:p.Ile29553Thr | |
| XM_024453098.1:c.88577T>C (TTN) | XP_024308866.1:p.Ile29526Thr | |
| XM_024453099.1:c.70340T>C (TTN) | XP_024308867.1:p.Ile23447Thr | |
| XM_024453100.1:c.60194T>C (TTN) | XP_024308868.1:p.Ile20065Thr |