Linked Data
ClinVar Variation Id:
451733
dbSNP Id:
rs1322596650
gnomAD v2:
2-179411050-G-A
gnomAD v4:
2-178546323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546323G>A , CM000664.2:g.178546323G>A | GRCh38 |
| NC_000002.11:g.179411050G>A , CM000664.1:g.179411050G>A | GRCh37 |
| NC_000002.10:g.179119296G>A | NCBI36 |
| NG_011618.3:g.289480C>T , LRG_391:g.289480C>T | |
| NG_051363.1:g.28497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87304C>T (TTN) | ENSP00000343764.6:p.Arg29102Ter | |
| ENST00000342175.11:c.68389C>T (TTN) | ENSP00000340554.6:p.Arg22797Ter | |
| ENST00000359218.10:c.68188C>T (TTN) | ENSP00000352154.5:p.Arg22730Ter | |
| ENST00000342175.10:c.68389C>T (TTN) | ENSP00000340554.6:p.Arg22797Ter | |
| ENST00000342992.10:c.87304C>T (TTN) | ENSP00000343764.6:p.Arg29102Ter | |
| ENST00000359218.9:c.68188C>T (TTN) | ENSP00000352154.5:p.Arg22730Ter | |
| ENST00000460472.6:c.67813C>T (TTN) | ENSP00000434586.1:p.Arg22605Ter | |
| ENST00000589042.5:c.95008C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31670Ter | |
| ENST00000591111.5:c.90085C>T (TTN) | ENSP00000465570.1:p.Arg30029Ter | |
| ENST00000615779.4:c.90085C>T (TTN) | ENSP00000483597.1:p.Arg30029Ter | |
| NM_001256850.1:c.90085C>T (TTN) | NP_001243779.1:p.Arg30029Ter | |
| NM_001267550.2:c.95008C>T (TTN) MANE Select | NP_001254479.2:p.Arg31670Ter | |
| NM_003319.4:c.67813C>T (TTN) | NP_003310.4:p.Arg22605Ter | |
| NM_133378.4:c.87304C>T (TTN) | NP_596869.4:p.Arg29102Ter | |
| NM_133432.3:c.68188C>T (TTN) | NP_597676.3:p.Arg22730Ter | |
| NM_133437.4:c.68389C>T (TTN) | NP_597681.4:p.Arg22797Ter | |
| NR_038271.1:n.446+22687G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3962G>A (TTN-AS1) | ||
| XM_011511729.1:c.94105C>T (TTN) | XP_011510031.1:p.Arg31369Ter | |
| XM_011511730.1:c.67999C>T (TTN) | XP_011510032.1:p.Arg22667Ter | |
| XM_011511731.1:c.67858C>T (TTN) | XP_011510033.1:p.Arg22620Ter | |
| XM_017004819.1:c.93901C>T (TTN) | XP_016860308.1:p.Arg31301Ter | |
| XM_017004820.1:c.89299C>T (TTN) | XP_016860309.1:p.Arg29767Ter | |
| XM_017004821.1:c.89296C>T (TTN) | XP_016860310.1:p.Arg29766Ter | |
| XM_017004822.1:c.86338C>T (TTN) | XP_016860311.1:p.Arg28780Ter | |
| XM_017004823.1:c.67954C>T (TTN) | XP_016860312.1:p.Arg22652Ter | |
| XM_024453094.1:c.89449C>T (TTN) | XP_024308862.1:p.Arg29817Ter | |
| XM_024453095.1:c.89446C>T (TTN) | XP_024308863.1:p.Arg29816Ter | |
| XM_024453096.1:c.88879C>T (TTN) | XP_024308864.1:p.Arg29627Ter | |
| XM_024453097.1:c.86221C>T (TTN) | XP_024308865.1:p.Arg28741Ter | |
| XM_024453098.1:c.86140C>T (TTN) | XP_024308866.1:p.Arg28714Ter | |
| XM_024453099.1:c.67903C>T (TTN) | XP_024308867.1:p.Arg22635Ter | |
| XM_024453100.1:c.57757C>T (TTN) | XP_024308868.1:p.Arg19253Ter |