dbSNP:
Revel Score:
ENST00000342992
0.215
ENST00000460472
0.215
ENST00000342175
0.215
ENST00000359218
0.215
ENST00000356127
0.215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614738A>G , CM000664.2:g.178614738A>G | GRCh38 |
| NC_000002.11:g.179479465A>G , CM000664.1:g.179479465A>G | GRCh37 |
| NC_000002.10:g.179187710A>G | NCBI36 |
| NG_011618.3:g.221065T>C , LRG_391:g.221065T>C | |
| NG_051363.1:g.96912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41072T>C (TTN) | ENSP00000343764.6:p.Phe13691Ser | |
| ENST00000342175.11:c.22157T>C (TTN) | ENSP00000340554.6:p.Phe7386Ser | |
| ENST00000359218.10:c.21956T>C (TTN) | ENSP00000352154.5:p.Phe7319Ser | |
| ENST00000342175.10:c.22157T>C (TTN) | ENSP00000340554.6:p.Phe7386Ser | |
| ENST00000342992.10:c.41072T>C (TTN) | ENSP00000343764.6:p.Phe13691Ser | |
| ENST00000359218.9:c.21956T>C (TTN) | ENSP00000352154.5:p.Phe7319Ser | |
| ENST00000460472.6:c.21581T>C (TTN) | ENSP00000434586.1:p.Phe7194Ser | |
| ENST00000589042.5:c.48776T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe16259Ser | |
| ENST00000591111.5:c.43853T>C (TTN) | ENSP00000465570.1:p.Phe14618Ser | |
| ENST00000615779.4:c.43853T>C (TTN) | ENSP00000483597.1:p.Phe14618Ser | |
| NM_001256850.1:c.43853T>C (TTN) | NP_001243779.1:p.Phe14618Ser | |
| NM_001267550.2:c.48776T>C (TTN) MANE Select | NP_001254479.2:p.Phe16259Ser | |
| NM_003319.4:c.21581T>C (TTN) | NP_003310.4:p.Phe7194Ser | |
| NM_133378.4:c.41072T>C (TTN) | NP_596869.4:p.Phe13691Ser | |
| NM_133432.3:c.21956T>C (TTN) | NP_597676.3:p.Phe7319Ser | |
| NM_133437.4:c.22157T>C (TTN) | NP_597681.4:p.Phe7386Ser | |
| NR_038271.1:n.1486A>G (TTN-AS1) | ||
| XM_011511729.1:c.47873T>C (TTN) | XP_011510031.1:p.Phe15958Ser | |
| XM_011511730.1:c.21767T>C (TTN) | XP_011510032.1:p.Phe7256Ser | |
| XM_011511731.1:c.21626T>C (TTN) | XP_011510033.1:p.Phe7209Ser | |
| XM_017004819.1:c.47669T>C (TTN) | XP_016860308.1:p.Phe15890Ser | |
| XM_017004820.1:c.43067T>C (TTN) | XP_016860309.1:p.Phe14356Ser | |
| XM_017004821.1:c.43064T>C (TTN) | XP_016860310.1:p.Phe14355Ser | |
| XM_017004822.1:c.40106T>C (TTN) | XP_016860311.1:p.Phe13369Ser | |
| XM_017004823.1:c.21722T>C (TTN) | XP_016860312.1:p.Phe7241Ser | |
| XM_024453094.1:c.43217T>C (TTN) | XP_024308862.1:p.Phe14406Ser | |
| XM_024453095.1:c.43214T>C (TTN) | XP_024308863.1:p.Phe14405Ser | |
| XM_024453096.1:c.42647T>C (TTN) | XP_024308864.1:p.Phe14216Ser | |
| XM_024453097.1:c.39989T>C (TTN) | XP_024308865.1:p.Phe13330Ser | |
| XM_024453098.1:c.39908T>C (TTN) | XP_024308866.1:p.Phe13303Ser | |
| XM_024453099.1:c.21671T>C (TTN) | XP_024308867.1:p.Phe7224Ser | |
| XM_024453100.1:c.11525T>C (TTN) | XP_024308868.1:p.Phe3842Ser |