Linked Data
ClinVar Variation Id:
506304
ClinVar RCV Id:
RCV000607160
RCV001133852
RCV001133854
RCV001133851
RCV001133853
RCV001133855
RCV000997344
dbSNP Id:
rs367760700
ExAC:
2:179407383 C / T
gnomAD v2:
2-179407383-C-T
gnomAD v3:
2-178542656-C-T
gnomAD v4:
2-178542656-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542656C>T , CM000664.2:g.178542656C>T | GRCh38 |
| NC_000002.11:g.179407383C>T , CM000664.1:g.179407383C>T | GRCh37 |
| NC_000002.10:g.179115629C>T | NCBI36 |
| NG_011618.3:g.293147G>A , LRG_391:g.293147G>A | |
| NG_051363.1:g.24830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89488+6G>A (TTN) | ENSP00000343764.6:n.89488+6G>A | |
| ENST00000342175.11:c.70573+6G>A (TTN) | ENSP00000340554.6:n.70573+6G>A | |
| ENST00000359218.10:c.70372+6G>A (TTN) | ENSP00000352154.5:n.70372+6G>A | |
| ENST00000342175.10:c.70573+6G>A (TTN) | ENSP00000340554.6:n.70573+6G>A | |
| ENST00000342992.10:c.89488+6G>A (TTN) | ENSP00000343764.6:n.89488+6G>A | |
| ENST00000359218.9:c.70372+6G>A (TTN) | ENSP00000352154.5:n.70372+6G>A | |
| ENST00000460472.6:c.69997+6G>A (TTN) | ENSP00000434586.1:n.69997+6G>A | |
| ENST00000589042.5:c.97192+6G>A (TTN) MANE Select | ENSP00000467141.1:n.97192+6G>A | |
| ENST00000591111.5:c.92269+6G>A (TTN) | ENSP00000465570.1:n.92269+6G>A | |
| ENST00000615779.4:c.92269+6G>A (TTN) | ENSP00000483597.1:n.92269+6G>A | |
| NM_001256850.1:c.92269+6G>A (TTN) | NP_001243779.1:n.92269+6G>A | |
| NM_001267550.2:c.97192+6G>A (TTN) MANE Select | NP_001254479.2:n.97192+6G>A | |
| NM_003319.4:c.69997+6G>A (TTN) | NP_003310.4:n.69997+6G>A | |
| NM_133378.4:c.89488+6G>A (TTN) | NP_596869.4:n.89488+6G>A | |
| NM_133432.3:c.70372+6G>A (TTN) | NP_597676.3:n.70372+6G>A | |
| NM_133437.4:c.70573+6G>A (TTN) | NP_597681.4:n.70573+6G>A | |
| NR_038271.1:n.446+19020C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+295C>T (TTN-AS1) | ||
| XM_011511729.1:c.96289+6G>A (TTN) | XP_011510031.1:n.96289+6G>A | |
| XM_011511730.1:c.70183+6G>A (TTN) | XP_011510032.1:n.70183+6G>A | |
| XM_011511731.1:c.70042+6G>A (TTN) | XP_011510033.1:n.70042+6G>A | |
| XM_017004819.1:c.96085+6G>A (TTN) | XP_016860308.1:n.96085+6G>A | |
| XM_017004820.1:c.91483+6G>A (TTN) | XP_016860309.1:n.91483+6G>A | |
| XM_017004821.1:c.91480+6G>A (TTN) | XP_016860310.1:n.91480+6G>A | |
| XM_017004822.1:c.88522+6G>A (TTN) | XP_016860311.1:n.88522+6G>A | |
| XM_017004823.1:c.70138+6G>A (TTN) | XP_016860312.1:n.70138+6G>A | |
| XM_024453094.1:c.91633+6G>A (TTN) | XP_024308862.1:n.91633+6G>A | |
| XM_024453095.1:c.91630+6G>A (TTN) | XP_024308863.1:n.91630+6G>A | |
| XM_024453096.1:c.91063+6G>A (TTN) | XP_024308864.1:n.91063+6G>A | |
| XM_024453097.1:c.88405+6G>A (TTN) | XP_024308865.1:n.88405+6G>A | |
| XM_024453098.1:c.88324+6G>A (TTN) | XP_024308866.1:n.88324+6G>A | |
| XM_024453099.1:c.70087+6G>A (TTN) | XP_024308867.1:n.70087+6G>A | |
| XM_024453100.1:c.59941+6G>A (TTN) | XP_024308868.1:n.59941+6G>A |