ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007662 (SAS)
Exomes Max Group AF
0.0000806 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614734G>C , CM000664.2:g.178614734G>C | GRCh38 |
| NC_000002.11:g.179479461G>C , CM000664.1:g.179479461G>C | GRCh37 |
| NC_000002.10:g.179187706G>C | NCBI36 |
| NG_011618.3:g.221069C>G , LRG_391:g.221069C>G | |
| NG_051363.1:g.96908G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41076C>G (TTN) | ENSP00000343764.6:p.Leu13692= | |
| ENST00000342175.11:c.22161C>G (TTN) | ENSP00000340554.6:p.Leu7387= | |
| ENST00000359218.10:c.21960C>G (TTN) | ENSP00000352154.5:p.Leu7320= | |
| ENST00000342175.10:c.22161C>G (TTN) | ENSP00000340554.6:p.Leu7387= | |
| ENST00000342992.10:c.41076C>G (TTN) | ENSP00000343764.6:p.Leu13692= | |
| ENST00000359218.9:c.21960C>G (TTN) | ENSP00000352154.5:p.Leu7320= | |
| ENST00000460472.6:c.21585C>G (TTN) | ENSP00000434586.1:p.Leu7195= | |
| ENST00000589042.5:c.48780C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu16260= | |
| ENST00000591111.5:c.43857C>G (TTN) | ENSP00000465570.1:p.Leu14619= | |
| ENST00000615779.4:c.43857C>G (TTN) | ENSP00000483597.1:p.Leu14619= | |
| NM_001256850.1:c.43857C>G (TTN) | NP_001243779.1:p.Leu14619= | |
| NM_001267550.2:c.48780C>G (TTN) MANE Select | NP_001254479.2:p.Leu16260= | |
| NM_003319.4:c.21585C>G (TTN) | NP_003310.4:p.Leu7195= | |
| NM_133378.4:c.41076C>G (TTN) | NP_596869.4:p.Leu13692= | |
| NM_133432.3:c.21960C>G (TTN) | NP_597676.3:p.Leu7320= | |
| NM_133437.4:c.22161C>G (TTN) | NP_597681.4:p.Leu7387= | |
| NR_038271.1:n.1482G>C (TTN-AS1) | ||
| XM_011511729.1:c.47877C>G (TTN) | XP_011510031.1:p.Leu15959= | |
| XM_011511730.1:c.21771C>G (TTN) | XP_011510032.1:p.Leu7257= | |
| XM_011511731.1:c.21630C>G (TTN) | XP_011510033.1:p.Leu7210= | |
| XM_017004819.1:c.47673C>G (TTN) | XP_016860308.1:p.Leu15891= | |
| XM_017004820.1:c.43071C>G (TTN) | XP_016860309.1:p.Leu14357= | |
| XM_017004821.1:c.43068C>G (TTN) | XP_016860310.1:p.Leu14356= | |
| XM_017004822.1:c.40110C>G (TTN) | XP_016860311.1:p.Leu13370= | |
| XM_017004823.1:c.21726C>G (TTN) | XP_016860312.1:p.Leu7242= | |
| XM_024453094.1:c.43221C>G (TTN) | XP_024308862.1:p.Leu14407= | |
| XM_024453095.1:c.43218C>G (TTN) | XP_024308863.1:p.Leu14406= | |
| XM_024453096.1:c.42651C>G (TTN) | XP_024308864.1:p.Leu14217= | |
| XM_024453097.1:c.39993C>G (TTN) | XP_024308865.1:p.Leu13331= | |
| XM_024453098.1:c.39912C>G (TTN) | XP_024308866.1:p.Leu13304= | |
| XM_024453099.1:c.21675C>G (TTN) | XP_024308867.1:p.Leu7225= | |
| XM_024453100.1:c.11529C>G (TTN) | XP_024308868.1:p.Leu3843= |