Linked Data
ClinVar Variation Id:
535658
dbSNP Id:
rs1472565206
gnomAD v2:
2-179454782-T-C
gnomAD v4:
2-178590055-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590055T>C , CM000664.2:g.178590055T>C | GRCh38 |
| NC_000002.11:g.179454782T>C , CM000664.1:g.179454782T>C | GRCh37 |
| NC_000002.10:g.179163028T>C | NCBI36 |
| NG_011618.3:g.245748A>G , LRG_391:g.245748A>G | |
| NG_051363.1:g.72229T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53966A>G (TTN) | ENSP00000343764.6:p.His17989Arg | |
| ENST00000342175.11:c.35051A>G (TTN) | ENSP00000340554.6:p.His11684Arg | |
| ENST00000359218.10:c.34850A>G (TTN) | ENSP00000352154.5:p.His11617Arg | |
| ENST00000342175.10:c.35051A>G (TTN) | ENSP00000340554.6:p.His11684Arg | |
| ENST00000342992.10:c.53966A>G (TTN) | ENSP00000343764.6:p.His17989Arg | |
| ENST00000359218.9:c.34850A>G (TTN) | ENSP00000352154.5:p.His11617Arg | |
| ENST00000460472.6:c.34475A>G (TTN) | ENSP00000434586.1:p.His11492Arg | |
| ENST00000589042.5:c.61670A>G (TTN) MANE Select | ENSP00000467141.1:p.His20557Arg | |
| ENST00000591111.5:c.56747A>G (TTN) | ENSP00000465570.1:p.His18916Arg | |
| ENST00000615779.4:c.56747A>G (TTN) | ENSP00000483597.1:p.His18916Arg | |
| NM_001256850.1:c.56747A>G (TTN) | NP_001243779.1:p.His18916Arg | |
| NM_001267550.2:c.61670A>G (TTN) MANE Select | NP_001254479.2:p.His20557Arg | |
| NM_003319.4:c.34475A>G (TTN) | NP_003310.4:p.His11492Arg | |
| NM_133378.4:c.53966A>G (TTN) | NP_596869.4:p.His17989Arg | |
| NM_133432.3:c.34850A>G (TTN) | NP_597676.3:p.His11617Arg | |
| NM_133437.4:c.35051A>G (TTN) | NP_597681.4:p.His11684Arg | |
| NR_038271.1:n.597-7541T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-1084T>C (TTN-AS1) | ||
| XM_011511729.1:c.60767A>G (TTN) | XP_011510031.1:p.His20256Arg | |
| XM_011511730.1:c.34661A>G (TTN) | XP_011510032.1:p.His11554Arg | |
| XM_011511731.1:c.34520A>G (TTN) | XP_011510033.1:p.His11507Arg | |
| XM_017004819.1:c.60563A>G (TTN) | XP_016860308.1:p.His20188Arg | |
| XM_017004820.1:c.55961A>G (TTN) | XP_016860309.1:p.His18654Arg | |
| XM_017004821.1:c.55958A>G (TTN) | XP_016860310.1:p.His18653Arg | |
| XM_017004822.1:c.53000A>G (TTN) | XP_016860311.1:p.His17667Arg | |
| XM_017004823.1:c.34616A>G (TTN) | XP_016860312.1:p.His11539Arg | |
| XM_024453094.1:c.56111A>G (TTN) | XP_024308862.1:p.His18704Arg | |
| XM_024453095.1:c.56108A>G (TTN) | XP_024308863.1:p.His18703Arg | |
| XM_024453096.1:c.55541A>G (TTN) | XP_024308864.1:p.His18514Arg | |
| XM_024453097.1:c.52883A>G (TTN) | XP_024308865.1:p.His17628Arg | |
| XM_024453098.1:c.52802A>G (TTN) | XP_024308866.1:p.His17601Arg | |
| XM_024453099.1:c.34565A>G (TTN) | XP_024308867.1:p.His11522Arg | |
| XM_024453100.1:c.24419A>G (TTN) | XP_024308868.1:p.His8140Arg |