Linked Data
ClinVar Variation Id:
535280
dbSNP Id:
rs372989710
ExAC:
2:179447126 T / C
gnomAD v2:
2-179447126-T-C
gnomAD v3:
2-178582399-T-C
gnomAD v4:
2-178582399-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582399T>C , CM000664.2:g.178582399T>C | GRCh38 |
| NC_000002.11:g.179447126T>C , CM000664.1:g.179447126T>C | GRCh37 |
| NC_000002.10:g.179155372T>C | NCBI36 |
| NG_011618.3:g.253404A>G , LRG_391:g.253404A>G | |
| NG_051363.1:g.64573T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58353A>G (TTN) | ENSP00000343764.6:p.Lys19451= | |
| ENST00000342175.11:c.39438A>G (TTN) | ENSP00000340554.6:p.Lys13146= | |
| ENST00000359218.10:c.39237A>G (TTN) | ENSP00000352154.5:p.Lys13079= | |
| ENST00000342175.10:c.39438A>G (TTN) | ENSP00000340554.6:p.Lys13146= | |
| ENST00000342992.10:c.58353A>G (TTN) | ENSP00000343764.6:p.Lys19451= | |
| ENST00000359218.9:c.39237A>G (TTN) | ENSP00000352154.5:p.Lys13079= | |
| ENST00000460472.6:c.38862A>G (TTN) | ENSP00000434586.1:p.Lys12954= | |
| ENST00000589042.5:c.66057A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys22019= | |
| ENST00000591111.5:c.61134A>G (TTN) | ENSP00000465570.1:p.Lys20378= | |
| ENST00000615779.4:c.61134A>G (TTN) | ENSP00000483597.1:p.Lys20378= | |
| NM_001256850.1:c.61134A>G (TTN) | NP_001243779.1:p.Lys20378= | |
| NM_001267550.2:c.66057A>G (TTN) MANE Select | NP_001254479.2:p.Lys22019= | |
| NM_003319.4:c.38862A>G (TTN) | NP_003310.4:p.Lys12954= | |
| NM_133378.4:c.58353A>G (TTN) | NP_596869.4:p.Lys19451= | |
| NM_133432.3:c.39237A>G (TTN) | NP_597676.3:p.Lys13079= | |
| NM_133437.4:c.39438A>G (TTN) | NP_597681.4:p.Lys13146= | |
| NR_038271.1:n.596+10950T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-173T>C (TTN-AS1) | ||
| XM_011511729.1:c.65154A>G (TTN) | XP_011510031.1:p.Lys21718= | |
| XM_011511730.1:c.39048A>G (TTN) | XP_011510032.1:p.Lys13016= | |
| XM_011511731.1:c.38907A>G (TTN) | XP_011510033.1:p.Lys12969= | |
| XM_017004819.1:c.64950A>G (TTN) | XP_016860308.1:p.Lys21650= | |
| XM_017004820.1:c.60348A>G (TTN) | XP_016860309.1:p.Lys20116= | |
| XM_017004821.1:c.60345A>G (TTN) | XP_016860310.1:p.Lys20115= | |
| XM_017004822.1:c.57387A>G (TTN) | XP_016860311.1:p.Lys19129= | |
| XM_017004823.1:c.39003A>G (TTN) | XP_016860312.1:p.Lys13001= | |
| XM_024453094.1:c.60498A>G (TTN) | XP_024308862.1:p.Lys20166= | |
| XM_024453095.1:c.60495A>G (TTN) | XP_024308863.1:p.Lys20165= | |
| XM_024453096.1:c.59928A>G (TTN) | XP_024308864.1:p.Lys19976= | |
| XM_024453097.1:c.57270A>G (TTN) | XP_024308865.1:p.Lys19090= | |
| XM_024453098.1:c.57189A>G (TTN) | XP_024308866.1:p.Lys19063= | |
| XM_024453099.1:c.38952A>G (TTN) | XP_024308867.1:p.Lys12984= | |
| XM_024453100.1:c.28806A>G (TTN) | XP_024308868.1:p.Lys9602= |