Linked Data
ClinVar Variation Id:
392699
dbSNP Id:
rs750368181
ExAC:
2:179442549 G / A
gnomAD v2:
2-179442549-G-A
gnomAD v4:
2-178577822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577822G>A , CM000664.2:g.178577822G>A | GRCh38 |
| NC_000002.11:g.179442549G>A , CM000664.1:g.179442549G>A | GRCh37 |
| NC_000002.10:g.179150795G>A | NCBI36 |
| NG_011618.3:g.257981C>T , LRG_391:g.257981C>T | |
| NG_051363.1:g.59996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60900C>T (TTN) | ENSP00000343764.6:p.Asp20300= | |
| ENST00000342175.11:c.41985C>T (TTN) | ENSP00000340554.6:p.Asp13995= | |
| ENST00000359218.10:c.41784C>T (TTN) | ENSP00000352154.5:p.Asp13928= | |
| ENST00000342175.10:c.41985C>T (TTN) | ENSP00000340554.6:p.Asp13995= | |
| ENST00000342992.10:c.60900C>T (TTN) | ENSP00000343764.6:p.Asp20300= | |
| ENST00000359218.9:c.41784C>T (TTN) | ENSP00000352154.5:p.Asp13928= | |
| ENST00000460472.6:c.41409C>T (TTN) | ENSP00000434586.1:p.Asp13803= | |
| ENST00000589042.5:c.68604C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp22868= | |
| ENST00000591111.5:c.63681C>T (TTN) | ENSP00000465570.1:p.Asp21227= | |
| ENST00000615779.4:c.63681C>T (TTN) | ENSP00000483597.1:p.Asp21227= | |
| NM_001256850.1:c.63681C>T (TTN) | NP_001243779.1:p.Asp21227= | |
| NM_001267550.2:c.68604C>T (TTN) MANE Select | NP_001254479.2:p.Asp22868= | |
| NM_003319.4:c.41409C>T (TTN) | NP_003310.4:p.Asp13803= | |
| NM_133378.4:c.60900C>T (TTN) | NP_596869.4:p.Asp20300= | |
| NM_133432.3:c.41784C>T (TTN) | NP_597676.3:p.Asp13928= | |
| NM_133437.4:c.41985C>T (TTN) | NP_597681.4:p.Asp13995= | |
| NR_038271.1:n.596+6373G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-4750G>A (TTN-AS1) | ||
| XM_011511729.1:c.67701C>T (TTN) | XP_011510031.1:p.Asp22567= | |
| XM_011511730.1:c.41595C>T (TTN) | XP_011510032.1:p.Asp13865= | |
| XM_011511731.1:c.41454C>T (TTN) | XP_011510033.1:p.Asp13818= | |
| XM_017004819.1:c.67497C>T (TTN) | XP_016860308.1:p.Asp22499= | |
| XM_017004820.1:c.62895C>T (TTN) | XP_016860309.1:p.Asp20965= | |
| XM_017004821.1:c.62892C>T (TTN) | XP_016860310.1:p.Asp20964= | |
| XM_017004822.1:c.59934C>T (TTN) | XP_016860311.1:p.Asp19978= | |
| XM_017004823.1:c.41550C>T (TTN) | XP_016860312.1:p.Asp13850= | |
| XM_024453094.1:c.63045C>T (TTN) | XP_024308862.1:p.Asp21015= | |
| XM_024453095.1:c.63042C>T (TTN) | XP_024308863.1:p.Asp21014= | |
| XM_024453096.1:c.62475C>T (TTN) | XP_024308864.1:p.Asp20825= | |
| XM_024453097.1:c.59817C>T (TTN) | XP_024308865.1:p.Asp19939= | |
| XM_024453098.1:c.59736C>T (TTN) | XP_024308866.1:p.Asp19912= | |
| XM_024453099.1:c.41499C>T (TTN) | XP_024308867.1:p.Asp13833= | |
| XM_024453100.1:c.31353C>T (TTN) | XP_024308868.1:p.Asp10451= |