Linked Data
ClinVar Variation Id:
516836
ClinVar RCV Id:
RCV000601678
RCV001131260
RCV001131262
RCV001134224
RCV001131261
RCV001131263
RCV003139928
dbSNP Id:
rs745962752
ExAC:
2:179408948 A / G
gnomAD v2:
2-179408948-A-G
gnomAD v3:
2-178544221-A-G
gnomAD v4:
2-178544221-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544221A>G , CM000664.2:g.178544221A>G | GRCh38 |
| NC_000002.11:g.179408948A>G , CM000664.1:g.179408948A>G | GRCh37 |
| NC_000002.10:g.179117194A>G | NCBI36 |
| NG_011618.3:g.291582T>C , LRG_391:g.291582T>C | |
| NG_051363.1:g.26395A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88304T>C (TTN) | ENSP00000343764.6:p.Ile29435Thr | |
| ENST00000342175.11:c.69389T>C (TTN) | ENSP00000340554.6:p.Ile23130Thr | |
| ENST00000359218.10:c.69188T>C (TTN) | ENSP00000352154.5:p.Ile23063Thr | |
| ENST00000342175.10:c.69389T>C (TTN) | ENSP00000340554.6:p.Ile23130Thr | |
| ENST00000342992.10:c.88304T>C (TTN) | ENSP00000343764.6:p.Ile29435Thr | |
| ENST00000359218.9:c.69188T>C (TTN) | ENSP00000352154.5:p.Ile23063Thr | |
| ENST00000460472.6:c.68813T>C (TTN) | ENSP00000434586.1:p.Ile22938Thr | |
| ENST00000589042.5:c.96008T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32003Thr | |
| ENST00000591111.5:c.91085T>C (TTN) | ENSP00000465570.1:p.Ile30362Thr | |
| ENST00000615779.4:c.91085T>C (TTN) | ENSP00000483597.1:p.Ile30362Thr | |
| NM_001256850.1:c.91085T>C (TTN) | NP_001243779.1:p.Ile30362Thr | |
| NM_001267550.2:c.96008T>C (TTN) MANE Select | NP_001254479.2:p.Ile32003Thr | |
| NM_003319.4:c.68813T>C (TTN) | NP_003310.4:p.Ile22938Thr | |
| NM_133378.4:c.88304T>C (TTN) | NP_596869.4:p.Ile29435Thr | |
| NM_133432.3:c.69188T>C (TTN) | NP_597676.3:p.Ile23063Thr | |
| NM_133437.4:c.69389T>C (TTN) | NP_597681.4:p.Ile23130Thr | |
| NR_038271.1:n.446+20585A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1860A>G (TTN-AS1) | ||
| XM_011511729.1:c.95105T>C (TTN) | XP_011510031.1:p.Ile31702Thr | |
| XM_011511730.1:c.68999T>C (TTN) | XP_011510032.1:p.Ile23000Thr | |
| XM_011511731.1:c.68858T>C (TTN) | XP_011510033.1:p.Ile22953Thr | |
| XM_017004819.1:c.94901T>C (TTN) | XP_016860308.1:p.Ile31634Thr | |
| XM_017004820.1:c.90299T>C (TTN) | XP_016860309.1:p.Ile30100Thr | |
| XM_017004821.1:c.90296T>C (TTN) | XP_016860310.1:p.Ile30099Thr | |
| XM_017004822.1:c.87338T>C (TTN) | XP_016860311.1:p.Ile29113Thr | |
| XM_017004823.1:c.68954T>C (TTN) | XP_016860312.1:p.Ile22985Thr | |
| XM_024453094.1:c.90449T>C (TTN) | XP_024308862.1:p.Ile30150Thr | |
| XM_024453095.1:c.90446T>C (TTN) | XP_024308863.1:p.Ile30149Thr | |
| XM_024453096.1:c.89879T>C (TTN) | XP_024308864.1:p.Ile29960Thr | |
| XM_024453097.1:c.87221T>C (TTN) | XP_024308865.1:p.Ile29074Thr | |
| XM_024453098.1:c.87140T>C (TTN) | XP_024308866.1:p.Ile29047Thr | |
| XM_024453099.1:c.68903T>C (TTN) | XP_024308867.1:p.Ile22968Thr | |
| XM_024453100.1:c.58757T>C (TTN) | XP_024308868.1:p.Ile19586Thr |