Linked Data
ClinVar Variation Id:
203007
ClinVar RCV Id:
RCV000234555
RCV001132852
RCV001132853
RCV001136261
RCV001136259
RCV001721171
RCV001136260
dbSNP Id:
rs370918800
ExAC:
2:179411381 C / T
gnomAD v2:
2-179411381-C-T
gnomAD v3:
2-178546654-C-T
gnomAD v4:
2-178546654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546654C>T , CM000664.2:g.178546654C>T | GRCh38 |
| NC_000002.11:g.179411381C>T , CM000664.1:g.179411381C>T | GRCh37 |
| NC_000002.10:g.179119627C>T | NCBI36 |
| NG_011618.3:g.289149G>A , LRG_391:g.289149G>A | |
| NG_051363.1:g.28828C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87070G>A (TTN) | ENSP00000343764.6:p.Val29024Ile | |
| ENST00000342175.11:c.68155G>A (TTN) | ENSP00000340554.6:p.Val22719Ile | |
| ENST00000359218.10:c.67954G>A (TTN) | ENSP00000352154.5:p.Val22652Ile | |
| ENST00000342175.10:c.68155G>A (TTN) | ENSP00000340554.6:p.Val22719Ile | |
| ENST00000342992.10:c.87070G>A (TTN) | ENSP00000343764.6:p.Val29024Ile | |
| ENST00000359218.9:c.67954G>A (TTN) | ENSP00000352154.5:p.Val22652Ile | |
| ENST00000460472.6:c.67579G>A (TTN) | ENSP00000434586.1:p.Val22527Ile | |
| ENST00000589042.5:c.94774G>A (TTN) MANE Select | ENSP00000467141.1:p.Val31592Ile | |
| ENST00000591111.5:c.89851G>A (TTN) | ENSP00000465570.1:p.Val29951Ile | |
| ENST00000615779.4:c.89851G>A (TTN) | ENSP00000483597.1:p.Val29951Ile | |
| NM_001256850.1:c.89851G>A (TTN) | NP_001243779.1:p.Val29951Ile | |
| NM_001267550.2:c.94774G>A (TTN) MANE Select | NP_001254479.2:p.Val31592Ile | |
| NM_003319.4:c.67579G>A (TTN) | NP_003310.4:p.Val22527Ile | |
| NM_133378.4:c.87070G>A (TTN) | NP_596869.4:p.Val29024Ile | |
| NM_133432.3:c.67954G>A (TTN) | NP_597676.3:p.Val22652Ile | |
| NM_133437.4:c.68155G>A (TTN) | NP_597681.4:p.Val22719Ile | |
| NR_038271.1:n.446+23018C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4293C>T (TTN-AS1) | ||
| XM_011511729.1:c.93871G>A (TTN) | XP_011510031.1:p.Val31291Ile | |
| XM_011511730.1:c.67765G>A (TTN) | XP_011510032.1:p.Val22589Ile | |
| XM_011511731.1:c.67624G>A (TTN) | XP_011510033.1:p.Val22542Ile | |
| XM_017004819.1:c.93667G>A (TTN) | XP_016860308.1:p.Val31223Ile | |
| XM_017004820.1:c.89065G>A (TTN) | XP_016860309.1:p.Val29689Ile | |
| XM_017004821.1:c.89062G>A (TTN) | XP_016860310.1:p.Val29688Ile | |
| XM_017004822.1:c.86104G>A (TTN) | XP_016860311.1:p.Val28702Ile | |
| XM_017004823.1:c.67720G>A (TTN) | XP_016860312.1:p.Val22574Ile | |
| XM_024453094.1:c.89215G>A (TTN) | XP_024308862.1:p.Val29739Ile | |
| XM_024453095.1:c.89212G>A (TTN) | XP_024308863.1:p.Val29738Ile | |
| XM_024453096.1:c.88645G>A (TTN) | XP_024308864.1:p.Val29549Ile | |
| XM_024453097.1:c.85987G>A (TTN) | XP_024308865.1:p.Val28663Ile | |
| XM_024453098.1:c.85906G>A (TTN) | XP_024308866.1:p.Val28636Ile | |
| XM_024453099.1:c.67669G>A (TTN) | XP_024308867.1:p.Val22557Ile | |
| XM_024453100.1:c.57523G>A (TTN) | XP_024308868.1:p.Val19175Ile |