Linked Data
ClinVar Variation Id:
467243
dbSNP Id:
rs749855424
ExAC:
2:179473415 G / A
gnomAD v2:
2-179473415-G-A
gnomAD v4:
2-178608688-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608688G>A , CM000664.2:g.178608688G>A | GRCh38 |
| NC_000002.11:g.179473415G>A , CM000664.1:g.179473415G>A | GRCh37 |
| NC_000002.10:g.179181660G>A | NCBI36 |
| NG_011618.3:g.227115C>T , LRG_391:g.227115C>T | |
| NG_051363.1:g.90862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44619C>T (TTN) | ENSP00000343764.6:p.Tyr14873= | |
| ENST00000342175.11:c.25704C>T (TTN) | ENSP00000340554.6:p.Tyr8568= | |
| ENST00000359218.10:c.25503C>T (TTN) | ENSP00000352154.5:p.Tyr8501= | |
| ENST00000342175.10:c.25704C>T (TTN) | ENSP00000340554.6:p.Tyr8568= | |
| ENST00000342992.10:c.44619C>T (TTN) | ENSP00000343764.6:p.Tyr14873= | |
| ENST00000359218.9:c.25503C>T (TTN) | ENSP00000352154.5:p.Tyr8501= | |
| ENST00000460472.6:c.25128C>T (TTN) | ENSP00000434586.1:p.Tyr8376= | |
| ENST00000589042.5:c.52323C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr17441= | |
| ENST00000591111.5:c.47400C>T (TTN) | ENSP00000465570.1:p.Tyr15800= | |
| ENST00000615779.4:c.47400C>T (TTN) | ENSP00000483597.1:p.Tyr15800= | |
| NM_001256850.1:c.47400C>T (TTN) | NP_001243779.1:p.Tyr15800= | |
| NM_001267550.2:c.52323C>T (TTN) MANE Select | NP_001254479.2:p.Tyr17441= | |
| NM_003319.4:c.25128C>T (TTN) | NP_003310.4:p.Tyr8376= | |
| NM_133378.4:c.44619C>T (TTN) | NP_596869.4:p.Tyr14873= | |
| NM_133432.3:c.25503C>T (TTN) | NP_597676.3:p.Tyr8501= | |
| NM_133437.4:c.25704C>T (TTN) | NP_597681.4:p.Tyr8568= | |
| NR_038271.1:n.782+422G>A (TTN-AS1) | ||
| XM_011511729.1:c.51420C>T (TTN) | XP_011510031.1:p.Tyr17140= | |
| XM_011511730.1:c.25314C>T (TTN) | XP_011510032.1:p.Tyr8438= | |
| XM_011511731.1:c.25173C>T (TTN) | XP_011510033.1:p.Tyr8391= | |
| XM_017004819.1:c.51216C>T (TTN) | XP_016860308.1:p.Tyr17072= | |
| XM_017004820.1:c.46614C>T (TTN) | XP_016860309.1:p.Tyr15538= | |
| XM_017004821.1:c.46611C>T (TTN) | XP_016860310.1:p.Tyr15537= | |
| XM_017004822.1:c.43653C>T (TTN) | XP_016860311.1:p.Tyr14551= | |
| XM_017004823.1:c.25269C>T (TTN) | XP_016860312.1:p.Tyr8423= | |
| XM_024453094.1:c.46764C>T (TTN) | XP_024308862.1:p.Tyr15588= | |
| XM_024453095.1:c.46761C>T (TTN) | XP_024308863.1:p.Tyr15587= | |
| XM_024453096.1:c.46194C>T (TTN) | XP_024308864.1:p.Tyr15398= | |
| XM_024453097.1:c.43536C>T (TTN) | XP_024308865.1:p.Tyr14512= | |
| XM_024453098.1:c.43455C>T (TTN) | XP_024308866.1:p.Tyr14485= | |
| XM_024453099.1:c.25218C>T (TTN) | XP_024308867.1:p.Tyr8406= | |
| XM_024453100.1:c.15072C>T (TTN) | XP_024308868.1:p.Tyr5024= |