Linked Data
ClinVar Variation Id:
178891
dbSNP Id:
rs530537991
ExAC:
2:179395623 C / T
gnomAD v2:
2-179395623-C-T
gnomAD v3:
2-178530896-C-T
gnomAD v4:
2-178530896-C-T
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530896C>T , CM000664.2:g.178530896C>T | GRCh38 |
| NC_000002.11:g.179395623C>T , CM000664.1:g.179395623C>T | GRCh37 |
| NC_000002.10:g.179103869C>T | NCBI36 |
| NG_011618.3:g.304907G>A , LRG_391:g.304907G>A | |
| NG_051363.1:g.13070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98015G>A (TTN) | ENSP00000343764.6:p.Arg32672Gln | |
| ENST00000342175.11:c.79100G>A (TTN) | ENSP00000340554.6:p.Arg26367Gln | |
| ENST00000359218.10:c.78899G>A (TTN) | ENSP00000352154.5:p.Arg26300Gln | |
| ENST00000342175.10:c.79100G>A (TTN) | ENSP00000340554.6:p.Arg26367Gln | |
| ENST00000342992.10:c.98015G>A (TTN) | ENSP00000343764.6:p.Arg32672Gln | |
| ENST00000359218.9:c.78899G>A (TTN) | ENSP00000352154.5:p.Arg26300Gln | |
| ENST00000460472.6:c.78524G>A (TTN) | ENSP00000434586.1:p.Arg26175Gln | |
| ENST00000589042.5:c.105719G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35240Gln | |
| ENST00000591111.5:c.100796G>A (TTN) | ENSP00000465570.1:p.Arg33599Gln | |
| ENST00000615779.4:c.100796G>A (TTN) | ENSP00000483597.1:p.Arg33599Gln | |
| NM_001256850.1:c.100796G>A (TTN) | NP_001243779.1:p.Arg33599Gln | |
| NM_001267550.2:c.105719G>A (TTN) MANE Select | NP_001254479.2:p.Arg35240Gln | |
| NM_003319.4:c.78524G>A (TTN) | NP_003310.4:p.Arg26175Gln | |
| NM_133378.4:c.98015G>A (TTN) | NP_596869.4:p.Arg32672Gln | |
| NM_133432.3:c.78899G>A (TTN) | NP_597676.3:p.Arg26300Gln | |
| NM_133437.4:c.79100G>A (TTN) | NP_597681.4:p.Arg26367Gln | |
| NR_038271.1:n.446+7260C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4836C>T (TTN-AS1) | ||
| XM_011511729.1:c.104816G>A (TTN) | XP_011510031.1:p.Arg34939Gln | |
| XM_011511730.1:c.78710G>A (TTN) | XP_011510032.1:p.Arg26237Gln | |
| XM_011511731.1:c.78569G>A (TTN) | XP_011510033.1:p.Arg26190Gln | |
| XM_017004819.1:c.104612G>A (TTN) | XP_016860308.1:p.Arg34871Gln | |
| XM_017004820.1:c.100010G>A (TTN) | XP_016860309.1:p.Arg33337Gln | |
| XM_017004821.1:c.100007G>A (TTN) | XP_016860310.1:p.Arg33336Gln | |
| XM_017004822.1:c.97049G>A (TTN) | XP_016860311.1:p.Arg32350Gln | |
| XM_017004823.1:c.78665G>A (TTN) | XP_016860312.1:p.Arg26222Gln | |
| XM_024453094.1:c.100160G>A (TTN) | XP_024308862.1:p.Arg33387Gln | |
| XM_024453095.1:c.100157G>A (TTN) | XP_024308863.1:p.Arg33386Gln | |
| XM_024453096.1:c.99590G>A (TTN) | XP_024308864.1:p.Arg33197Gln | |
| XM_024453097.1:c.96932G>A (TTN) | XP_024308865.1:p.Arg32311Gln | |
| XM_024453098.1:c.96851G>A (TTN) | XP_024308866.1:p.Arg32284Gln | |
| XM_024453099.1:c.78614G>A (TTN) | XP_024308867.1:p.Arg26205Gln | |
| XM_024453100.1:c.68468G>A (TTN) | XP_024308868.1:p.Arg22823Gln |