Linked Data
ClinVar Variation Id:
405037
ClinVar RCV Id:
RCV000476896
dbSNP Id:
rs1060500538
gnomAD v2:
2-179395845-C-A
gnomAD v4:
2-178531118-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531118C>A , CM000664.2:g.178531118C>A | GRCh38 |
| NC_000002.11:g.179395845C>A , CM000664.1:g.179395845C>A | GRCh37 |
| NC_000002.10:g.179104091C>A | NCBI36 |
| NG_011618.3:g.304685G>T , LRG_391:g.304685G>T | |
| NG_051363.1:g.13292C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97793G>T (TTN) | ENSP00000343764.6:p.Gly32598Val | |
| ENST00000342175.11:c.78878G>T (TTN) | ENSP00000340554.6:p.Gly26293Val | |
| ENST00000359218.10:c.78677G>T (TTN) | ENSP00000352154.5:p.Gly26226Val | |
| ENST00000342175.10:c.78878G>T (TTN) | ENSP00000340554.6:p.Gly26293Val | |
| ENST00000342992.10:c.97793G>T (TTN) | ENSP00000343764.6:p.Gly32598Val | |
| ENST00000359218.9:c.78677G>T (TTN) | ENSP00000352154.5:p.Gly26226Val | |
| ENST00000460472.6:c.78302G>T (TTN) | ENSP00000434586.1:p.Gly26101Val | |
| ENST00000589042.5:c.105497G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly35166Val | |
| ENST00000591111.5:c.100574G>T (TTN) | ENSP00000465570.1:p.Gly33525Val | |
| ENST00000615779.4:c.100574G>T (TTN) | ENSP00000483597.1:p.Gly33525Val | |
| NM_001256850.1:c.100574G>T (TTN) | NP_001243779.1:p.Gly33525Val | |
| NM_001267550.2:c.105497G>T (TTN) MANE Select | NP_001254479.2:p.Gly35166Val | |
| NM_003319.4:c.78302G>T (TTN) | NP_003310.4:p.Gly26101Val | |
| NM_133378.4:c.97793G>T (TTN) | NP_596869.4:p.Gly32598Val | |
| NM_133432.3:c.78677G>T (TTN) | NP_597676.3:p.Gly26226Val | |
| NM_133437.4:c.78878G>T (TTN) | NP_597681.4:p.Gly26293Val | |
| NR_038271.1:n.446+7482C>A (TTN-AS1) | ||
| NR_038272.1:n.220-4614C>A (TTN-AS1) | ||
| XM_011511729.1:c.104594G>T (TTN) | XP_011510031.1:p.Gly34865Val | |
| XM_011511730.1:c.78488G>T (TTN) | XP_011510032.1:p.Gly26163Val | |
| XM_011511731.1:c.78347G>T (TTN) | XP_011510033.1:p.Gly26116Val | |
| XM_017004819.1:c.104390G>T (TTN) | XP_016860308.1:p.Gly34797Val | |
| XM_017004820.1:c.99788G>T (TTN) | XP_016860309.1:p.Gly33263Val | |
| XM_017004821.1:c.99785G>T (TTN) | XP_016860310.1:p.Gly33262Val | |
| XM_017004822.1:c.96827G>T (TTN) | XP_016860311.1:p.Gly32276Val | |
| XM_017004823.1:c.78443G>T (TTN) | XP_016860312.1:p.Gly26148Val | |
| XM_024453094.1:c.99938G>T (TTN) | XP_024308862.1:p.Gly33313Val | |
| XM_024453095.1:c.99935G>T (TTN) | XP_024308863.1:p.Gly33312Val | |
| XM_024453096.1:c.99368G>T (TTN) | XP_024308864.1:p.Gly33123Val | |
| XM_024453097.1:c.96710G>T (TTN) | XP_024308865.1:p.Gly32237Val | |
| XM_024453098.1:c.96629G>T (TTN) | XP_024308866.1:p.Gly32210Val | |
| XM_024453099.1:c.78392G>T (TTN) | XP_024308867.1:p.Gly26131Val | |
| XM_024453100.1:c.68246G>T (TTN) | XP_024308868.1:p.Gly22749Val |