Linked Data
ClinVar Variation Id:
229562
dbSNP Id:
rs762498249
ExAC:
2:179399520 C / G
gnomAD v2:
2-179399520-C-G
gnomAD v3:
2-178534793-C-G
gnomAD v4:
2-178534793-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534793C>G , CM000664.2:g.178534793C>G | GRCh38 |
| NC_000002.11:g.179399520C>G , CM000664.1:g.179399520C>G | GRCh37 |
| NC_000002.10:g.179107766C>G | NCBI36 |
| NG_011618.3:g.301010G>C , LRG_391:g.301010G>C | |
| NG_051363.1:g.16967C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94118G>C (TTN) | ENSP00000343764.6:p.Arg31373Thr | |
| ENST00000342175.11:c.75203G>C (TTN) | ENSP00000340554.6:p.Arg25068Thr | |
| ENST00000359218.10:c.75002G>C (TTN) | ENSP00000352154.5:p.Arg25001Thr | |
| ENST00000342175.10:c.75203G>C (TTN) | ENSP00000340554.6:p.Arg25068Thr | |
| ENST00000342992.10:c.94118G>C (TTN) | ENSP00000343764.6:p.Arg31373Thr | |
| ENST00000359218.9:c.75002G>C (TTN) | ENSP00000352154.5:p.Arg25001Thr | |
| ENST00000460472.6:c.74627G>C (TTN) | ENSP00000434586.1:p.Arg24876Thr | |
| ENST00000589042.5:c.101822G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg33941Thr | |
| ENST00000591111.5:c.96899G>C (TTN) | ENSP00000465570.1:p.Arg32300Thr | |
| ENST00000615779.4:c.96899G>C (TTN) | ENSP00000483597.1:p.Arg32300Thr | |
| NM_001256850.1:c.96899G>C (TTN) | NP_001243779.1:p.Arg32300Thr | |
| NM_001267550.2:c.101822G>C (TTN) MANE Select | NP_001254479.2:p.Arg33941Thr | |
| NM_003319.4:c.74627G>C (TTN) | NP_003310.4:p.Arg24876Thr | |
| NM_133378.4:c.94118G>C (TTN) | NP_596869.4:p.Arg31373Thr | |
| NM_133432.3:c.75002G>C (TTN) | NP_597676.3:p.Arg25001Thr | |
| NM_133437.4:c.75203G>C (TTN) | NP_597681.4:p.Arg25068Thr | |
| NR_038271.1:n.446+11157C>G (TTN-AS1) | ||
| NR_038272.1:n.220-939C>G (TTN-AS1) | ||
| XM_011511729.1:c.100919G>C (TTN) | XP_011510031.1:p.Arg33640Thr | |
| XM_011511730.1:c.74813G>C (TTN) | XP_011510032.1:p.Arg24938Thr | |
| XM_011511731.1:c.74672G>C (TTN) | XP_011510033.1:p.Arg24891Thr | |
| XM_017004819.1:c.100715G>C (TTN) | XP_016860308.1:p.Arg33572Thr | |
| XM_017004820.1:c.96113G>C (TTN) | XP_016860309.1:p.Arg32038Thr | |
| XM_017004821.1:c.96110G>C (TTN) | XP_016860310.1:p.Arg32037Thr | |
| XM_017004822.1:c.93152G>C (TTN) | XP_016860311.1:p.Arg31051Thr | |
| XM_017004823.1:c.74768G>C (TTN) | XP_016860312.1:p.Arg24923Thr | |
| XM_024453094.1:c.96263G>C (TTN) | XP_024308862.1:p.Arg32088Thr | |
| XM_024453095.1:c.96260G>C (TTN) | XP_024308863.1:p.Arg32087Thr | |
| XM_024453096.1:c.95693G>C (TTN) | XP_024308864.1:p.Arg31898Thr | |
| XM_024453097.1:c.93035G>C (TTN) | XP_024308865.1:p.Arg31012Thr | |
| XM_024453098.1:c.92954G>C (TTN) | XP_024308866.1:p.Arg30985Thr | |
| XM_024453099.1:c.74717G>C (TTN) | XP_024308867.1:p.Arg24906Thr | |
| XM_024453100.1:c.64571G>C (TTN) | XP_024308868.1:p.Arg21524Thr |