dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001749 (AFR)
Genomes Max Group AF
0.00001923 (AFR)
Revel Score:
ENST00000342992
0.224
ENST00000460472
0.224
ENST00000342175
0.224
ENST00000359218
0.224
ENST00000356127
0.224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614631C>A , CM000664.2:g.178614631C>A | GRCh38 |
| NC_000002.11:g.179479358C>A , CM000664.1:g.179479358C>A | GRCh37 |
| NC_000002.10:g.179187603C>A | NCBI36 |
| NG_011618.3:g.221172G>T , LRG_391:g.221172G>T | |
| NG_051363.1:g.96805C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41179G>T (TTN) | ENSP00000343764.6:p.Ala13727Ser | |
| ENST00000342175.11:c.22264G>T (TTN) | ENSP00000340554.6:p.Ala7422Ser | |
| ENST00000359218.10:c.22063G>T (TTN) | ENSP00000352154.5:p.Ala7355Ser | |
| ENST00000342175.10:c.22264G>T (TTN) | ENSP00000340554.6:p.Ala7422Ser | |
| ENST00000342992.10:c.41179G>T (TTN) | ENSP00000343764.6:p.Ala13727Ser | |
| ENST00000359218.9:c.22063G>T (TTN) | ENSP00000352154.5:p.Ala7355Ser | |
| ENST00000460472.6:c.21688G>T (TTN) | ENSP00000434586.1:p.Ala7230Ser | |
| ENST00000589042.5:c.48883G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala16295Ser | |
| ENST00000591111.5:c.43960G>T (TTN) | ENSP00000465570.1:p.Ala14654Ser | |
| ENST00000615779.4:c.43960G>T (TTN) | ENSP00000483597.1:p.Ala14654Ser | |
| NM_001256850.1:c.43960G>T (TTN) | NP_001243779.1:p.Ala14654Ser | |
| NM_001267550.2:c.48883G>T (TTN) MANE Select | NP_001254479.2:p.Ala16295Ser | |
| NM_003319.4:c.21688G>T (TTN) | NP_003310.4:p.Ala7230Ser | |
| NM_133378.4:c.41179G>T (TTN) | NP_596869.4:p.Ala13727Ser | |
| NM_133432.3:c.22063G>T (TTN) | NP_597676.3:p.Ala7355Ser | |
| NM_133437.4:c.22264G>T (TTN) | NP_597681.4:p.Ala7422Ser | |
| NR_038271.1:n.1379C>A (TTN-AS1) | ||
| XM_011511729.1:c.47980G>T (TTN) | XP_011510031.1:p.Ala15994Ser | |
| XM_011511730.1:c.21874G>T (TTN) | XP_011510032.1:p.Ala7292Ser | |
| XM_011511731.1:c.21733G>T (TTN) | XP_011510033.1:p.Ala7245Ser | |
| XM_017004819.1:c.47776G>T (TTN) | XP_016860308.1:p.Ala15926Ser | |
| XM_017004820.1:c.43174G>T (TTN) | XP_016860309.1:p.Ala14392Ser | |
| XM_017004821.1:c.43171G>T (TTN) | XP_016860310.1:p.Ala14391Ser | |
| XM_017004822.1:c.40213G>T (TTN) | XP_016860311.1:p.Ala13405Ser | |
| XM_017004823.1:c.21829G>T (TTN) | XP_016860312.1:p.Ala7277Ser | |
| XM_024453094.1:c.43324G>T (TTN) | XP_024308862.1:p.Ala14442Ser | |
| XM_024453095.1:c.43321G>T (TTN) | XP_024308863.1:p.Ala14441Ser | |
| XM_024453096.1:c.42754G>T (TTN) | XP_024308864.1:p.Ala14252Ser | |
| XM_024453097.1:c.40096G>T (TTN) | XP_024308865.1:p.Ala13366Ser | |
| XM_024453098.1:c.40015G>T (TTN) | XP_024308866.1:p.Ala13339Ser | |
| XM_024453099.1:c.21778G>T (TTN) | XP_024308867.1:p.Ala7260Ser | |
| XM_024453100.1:c.11632G>T (TTN) | XP_024308868.1:p.Ala3878Ser |