Linked Data
ClinVar Variation Id:
202686
ClinVar RCV Id:
RCV000220451
RCV000465576
RCV001133606
RCV001133607
RCV001133609
RCV001133608
RCV001133610
RCV001704903
dbSNP Id:
rs370067597
ExAC:
2:179476182 A / G
gnomAD v2:
2-179476182-A-G
gnomAD v3:
2-178611455-A-G
gnomAD v4:
2-178611455-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611455A>G , CM000664.2:g.178611455A>G | GRCh38 |
| NC_000002.11:g.179476182A>G , CM000664.1:g.179476182A>G | GRCh37 |
| NC_000002.10:g.179184427A>G | NCBI36 |
| NG_011618.3:g.224348T>C , LRG_391:g.224348T>C | |
| NG_051363.1:g.93629A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43070T>C (TTN) | ENSP00000343764.6:p.Val14357Ala | |
| ENST00000342175.11:c.24155T>C (TTN) | ENSP00000340554.6:p.Val8052Ala | |
| ENST00000359218.10:c.23954T>C (TTN) | ENSP00000352154.5:p.Val7985Ala | |
| ENST00000342175.10:c.24155T>C (TTN) | ENSP00000340554.6:p.Val8052Ala | |
| ENST00000342992.10:c.43070T>C (TTN) | ENSP00000343764.6:p.Val14357Ala | |
| ENST00000359218.9:c.23954T>C (TTN) | ENSP00000352154.5:p.Val7985Ala | |
| ENST00000460472.6:c.23579T>C (TTN) | ENSP00000434586.1:p.Val7860Ala | |
| ENST00000589042.5:c.50774T>C (TTN) MANE Select | ENSP00000467141.1:p.Val16925Ala | |
| ENST00000591111.5:c.45851T>C (TTN) | ENSP00000465570.1:p.Val15284Ala | |
| ENST00000615779.4:c.45851T>C (TTN) | ENSP00000483597.1:p.Val15284Ala | |
| NM_001256850.1:c.45851T>C (TTN) | NP_001243779.1:p.Val15284Ala | |
| NM_001267550.2:c.50774T>C (TTN) MANE Select | NP_001254479.2:p.Val16925Ala | |
| NM_003319.4:c.23579T>C (TTN) | NP_003310.4:p.Val7860Ala | |
| NM_133378.4:c.43070T>C (TTN) | NP_596869.4:p.Val14357Ala | |
| NM_133432.3:c.23954T>C (TTN) | NP_597676.3:p.Val7985Ala | |
| NM_133437.4:c.24155T>C (TTN) | NP_597681.4:p.Val8052Ala | |
| NR_038271.1:n.783-2580A>G (TTN-AS1) | ||
| XM_011511729.1:c.49871T>C (TTN) | XP_011510031.1:p.Val16624Ala | |
| XM_011511730.1:c.23765T>C (TTN) | XP_011510032.1:p.Val7922Ala | |
| XM_011511731.1:c.23624T>C (TTN) | XP_011510033.1:p.Val7875Ala | |
| XM_017004819.1:c.49667T>C (TTN) | XP_016860308.1:p.Val16556Ala | |
| XM_017004820.1:c.45065T>C (TTN) | XP_016860309.1:p.Val15022Ala | |
| XM_017004821.1:c.45062T>C (TTN) | XP_016860310.1:p.Val15021Ala | |
| XM_017004822.1:c.42104T>C (TTN) | XP_016860311.1:p.Val14035Ala | |
| XM_017004823.1:c.23720T>C (TTN) | XP_016860312.1:p.Val7907Ala | |
| XM_024453094.1:c.45215T>C (TTN) | XP_024308862.1:p.Val15072Ala | |
| XM_024453095.1:c.45212T>C (TTN) | XP_024308863.1:p.Val15071Ala | |
| XM_024453096.1:c.44645T>C (TTN) | XP_024308864.1:p.Val14882Ala | |
| XM_024453097.1:c.41987T>C (TTN) | XP_024308865.1:p.Val13996Ala | |
| XM_024453098.1:c.41906T>C (TTN) | XP_024308866.1:p.Val13969Ala | |
| XM_024453099.1:c.23669T>C (TTN) | XP_024308867.1:p.Val7890Ala | |
| XM_024453100.1:c.13523T>C (TTN) | XP_024308868.1:p.Val4508Ala |