Linked Data
ClinVar Variation Id:
263622
dbSNP Id:
rs749248039
ExAC:
2:179469456 A / G
gnomAD v2:
2-179469456-A-G
gnomAD v4:
2-178604729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604729A>G , CM000664.2:g.178604729A>G | GRCh38 |
| NC_000002.11:g.179469456A>G , CM000664.1:g.179469456A>G | GRCh37 |
| NC_000002.10:g.179177701A>G | NCBI36 |
| NG_011618.3:g.231074T>C , LRG_391:g.231074T>C | |
| NG_051363.1:g.86903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46656T>C (TTN) | ENSP00000343764.6:p.Thr15552= | |
| ENST00000342175.11:c.27741T>C (TTN) | ENSP00000340554.6:p.Thr9247= | |
| ENST00000359218.10:c.27540T>C (TTN) | ENSP00000352154.5:p.Thr9180= | |
| ENST00000342175.10:c.27741T>C (TTN) | ENSP00000340554.6:p.Thr9247= | |
| ENST00000342992.10:c.46656T>C (TTN) | ENSP00000343764.6:p.Thr15552= | |
| ENST00000359218.9:c.27540T>C (TTN) | ENSP00000352154.5:p.Thr9180= | |
| ENST00000460472.6:c.27165T>C (TTN) | ENSP00000434586.1:p.Thr9055= | |
| ENST00000589042.5:c.54360T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr18120= | |
| ENST00000591111.5:c.49437T>C (TTN) | ENSP00000465570.1:p.Thr16479= | |
| ENST00000615779.4:c.49437T>C (TTN) | ENSP00000483597.1:p.Thr16479= | |
| NM_001256850.1:c.49437T>C (TTN) | NP_001243779.1:p.Thr16479= | |
| NM_001267550.2:c.54360T>C (TTN) MANE Select | NP_001254479.2:p.Thr18120= | |
| NM_003319.4:c.27165T>C (TTN) | NP_003310.4:p.Thr9055= | |
| NM_133378.4:c.46656T>C (TTN) | NP_596869.4:p.Thr15552= | |
| NM_133432.3:c.27540T>C (TTN) | NP_597676.3:p.Thr9180= | |
| NM_133437.4:c.27741T>C (TTN) | NP_597681.4:p.Thr9247= | |
| NR_038271.1:n.683-3438A>G (TTN-AS1) | ||
| NR_038272.1:n.3918-2A>G (TTN-AS1) | ||
| XM_011511729.1:c.53457T>C (TTN) | XP_011510031.1:p.Thr17819= | |
| XM_011511730.1:c.27351T>C (TTN) | XP_011510032.1:p.Thr9117= | |
| XM_011511731.1:c.27210T>C (TTN) | XP_011510033.1:p.Thr9070= | |
| XM_017004819.1:c.53253T>C (TTN) | XP_016860308.1:p.Thr17751= | |
| XM_017004820.1:c.48651T>C (TTN) | XP_016860309.1:p.Thr16217= | |
| XM_017004821.1:c.48648T>C (TTN) | XP_016860310.1:p.Thr16216= | |
| XM_017004822.1:c.45690T>C (TTN) | XP_016860311.1:p.Thr15230= | |
| XM_017004823.1:c.27306T>C (TTN) | XP_016860312.1:p.Thr9102= | |
| XM_024453094.1:c.48801T>C (TTN) | XP_024308862.1:p.Thr16267= | |
| XM_024453095.1:c.48798T>C (TTN) | XP_024308863.1:p.Thr16266= | |
| XM_024453096.1:c.48231T>C (TTN) | XP_024308864.1:p.Thr16077= | |
| XM_024453097.1:c.45573T>C (TTN) | XP_024308865.1:p.Thr15191= | |
| XM_024453098.1:c.45492T>C (TTN) | XP_024308866.1:p.Thr15164= | |
| XM_024453099.1:c.27255T>C (TTN) | XP_024308867.1:p.Thr9085= | |
| XM_024453100.1:c.17109T>C (TTN) | XP_024308868.1:p.Thr5703= |