Linked Data
ClinVar Variation Id:
466747
dbSNP Id:
rs373610666
ExAC:
2:179395324 C / T
gnomAD v2:
2-179395324-C-T
gnomAD v4:
2-178530597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530597C>T , CM000664.2:g.178530597C>T | GRCh38 |
| NC_000002.11:g.179395324C>T , CM000664.1:g.179395324C>T | GRCh37 |
| NC_000002.10:g.179103570C>T | NCBI36 |
| NG_011618.3:g.305206G>A , LRG_391:g.305206G>A | |
| NG_051363.1:g.12771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98314G>A (TTN) | ENSP00000343764.6:p.Gly32772Ser | |
| ENST00000342175.11:c.79399G>A (TTN) | ENSP00000340554.6:p.Gly26467Ser | |
| ENST00000359218.10:c.79198G>A (TTN) | ENSP00000352154.5:p.Gly26400Ser | |
| ENST00000342175.10:c.79399G>A (TTN) | ENSP00000340554.6:p.Gly26467Ser | |
| ENST00000342992.10:c.98314G>A (TTN) | ENSP00000343764.6:p.Gly32772Ser | |
| ENST00000359218.9:c.79198G>A (TTN) | ENSP00000352154.5:p.Gly26400Ser | |
| ENST00000460472.6:c.78823G>A (TTN) | ENSP00000434586.1:p.Gly26275Ser | |
| ENST00000589042.5:c.106018G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly35340Ser | |
| ENST00000591111.5:c.101095G>A (TTN) | ENSP00000465570.1:p.Gly33699Ser | |
| ENST00000615779.4:c.101095G>A (TTN) | ENSP00000483597.1:p.Gly33699Ser | |
| NM_001256850.1:c.101095G>A (TTN) | NP_001243779.1:p.Gly33699Ser | |
| NM_001267550.2:c.106018G>A (TTN) MANE Select | NP_001254479.2:p.Gly35340Ser | |
| NM_003319.4:c.78823G>A (TTN) | NP_003310.4:p.Gly26275Ser | |
| NM_133378.4:c.98314G>A (TTN) | NP_596869.4:p.Gly32772Ser | |
| NM_133432.3:c.79198G>A (TTN) | NP_597676.3:p.Gly26400Ser | |
| NM_133437.4:c.79399G>A (TTN) | NP_597681.4:p.Gly26467Ser | |
| NR_038271.1:n.446+6961C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5135C>T (TTN-AS1) | ||
| XM_011511729.1:c.105115G>A (TTN) | XP_011510031.1:p.Gly35039Ser | |
| XM_011511730.1:c.79009G>A (TTN) | XP_011510032.1:p.Gly26337Ser | |
| XM_011511731.1:c.78868G>A (TTN) | XP_011510033.1:p.Gly26290Ser | |
| XM_017004819.1:c.104911G>A (TTN) | XP_016860308.1:p.Gly34971Ser | |
| XM_017004820.1:c.100309G>A (TTN) | XP_016860309.1:p.Gly33437Ser | |
| XM_017004821.1:c.100306G>A (TTN) | XP_016860310.1:p.Gly33436Ser | |
| XM_017004822.1:c.97348G>A (TTN) | XP_016860311.1:p.Gly32450Ser | |
| XM_017004823.1:c.78964G>A (TTN) | XP_016860312.1:p.Gly26322Ser | |
| XM_024453094.1:c.100459G>A (TTN) | XP_024308862.1:p.Gly33487Ser | |
| XM_024453095.1:c.100456G>A (TTN) | XP_024308863.1:p.Gly33486Ser | |
| XM_024453096.1:c.99889G>A (TTN) | XP_024308864.1:p.Gly33297Ser | |
| XM_024453097.1:c.97231G>A (TTN) | XP_024308865.1:p.Gly32411Ser | |
| XM_024453098.1:c.97150G>A (TTN) | XP_024308866.1:p.Gly32384Ser | |
| XM_024453099.1:c.78913G>A (TTN) | XP_024308867.1:p.Gly26305Ser | |
| XM_024453100.1:c.68767G>A (TTN) | XP_024308868.1:p.Gly22923Ser |