Linked Data
ClinVar Variation Id:
332697
ClinVar RCV Id:
RCV000259921
RCV000298697
RCV000357106
RCV000370182
RCV000404855
RCV000603386
RCV000831397
RCV001429062
dbSNP Id:
rs541125667
ExAC:
2:179398358 G / A
gnomAD v2:
2-179398358-G-A
gnomAD v3:
2-178533631-G-A
gnomAD v4:
2-178533631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533631G>A , CM000664.2:g.178533631G>A | GRCh38 |
| NC_000002.11:g.179398358G>A , CM000664.1:g.179398358G>A | GRCh37 |
| NC_000002.10:g.179106604G>A | NCBI36 |
| NG_011618.3:g.302172C>T , LRG_391:g.302172C>T | |
| NG_051363.1:g.15805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95280C>T (TTN) | ENSP00000343764.6:p.Asp31760= | |
| ENST00000342175.11:c.76365C>T (TTN) | ENSP00000340554.6:p.Asp25455= | |
| ENST00000359218.10:c.76164C>T (TTN) | ENSP00000352154.5:p.Asp25388= | |
| ENST00000342175.10:c.76365C>T (TTN) | ENSP00000340554.6:p.Asp25455= | |
| ENST00000342992.10:c.95280C>T (TTN) | ENSP00000343764.6:p.Asp31760= | |
| ENST00000359218.9:c.76164C>T (TTN) | ENSP00000352154.5:p.Asp25388= | |
| ENST00000460472.6:c.75789C>T (TTN) | ENSP00000434586.1:p.Asp25263= | |
| ENST00000589042.5:c.102984C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp34328= | |
| ENST00000591111.5:c.98061C>T (TTN) | ENSP00000465570.1:p.Asp32687= | |
| ENST00000615779.4:c.98061C>T (TTN) | ENSP00000483597.1:p.Asp32687= | |
| NM_001256850.1:c.98061C>T (TTN) | NP_001243779.1:p.Asp32687= | |
| NM_001267550.2:c.102984C>T (TTN) MANE Select | NP_001254479.2:p.Asp34328= | |
| NM_003319.4:c.75789C>T (TTN) | NP_003310.4:p.Asp25263= | |
| NM_133378.4:c.95280C>T (TTN) | NP_596869.4:p.Asp31760= | |
| NM_133432.3:c.76164C>T (TTN) | NP_597676.3:p.Asp25388= | |
| NM_133437.4:c.76365C>T (TTN) | NP_597681.4:p.Asp25455= | |
| NR_038271.1:n.446+9995G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2101G>A (TTN-AS1) | ||
| XM_011511729.1:c.102081C>T (TTN) | XP_011510031.1:p.Asp34027= | |
| XM_011511730.1:c.75975C>T (TTN) | XP_011510032.1:p.Asp25325= | |
| XM_011511731.1:c.75834C>T (TTN) | XP_011510033.1:p.Asp25278= | |
| XM_017004819.1:c.101877C>T (TTN) | XP_016860308.1:p.Asp33959= | |
| XM_017004820.1:c.97275C>T (TTN) | XP_016860309.1:p.Asp32425= | |
| XM_017004821.1:c.97272C>T (TTN) | XP_016860310.1:p.Asp32424= | |
| XM_017004822.1:c.94314C>T (TTN) | XP_016860311.1:p.Asp31438= | |
| XM_017004823.1:c.75930C>T (TTN) | XP_016860312.1:p.Asp25310= | |
| XM_024453094.1:c.97425C>T (TTN) | XP_024308862.1:p.Asp32475= | |
| XM_024453095.1:c.97422C>T (TTN) | XP_024308863.1:p.Asp32474= | |
| XM_024453096.1:c.96855C>T (TTN) | XP_024308864.1:p.Asp32285= | |
| XM_024453097.1:c.94197C>T (TTN) | XP_024308865.1:p.Asp31399= | |
| XM_024453098.1:c.94116C>T (TTN) | XP_024308866.1:p.Asp31372= | |
| XM_024453099.1:c.75879C>T (TTN) | XP_024308867.1:p.Asp25293= | |
| XM_024453100.1:c.65733C>T (TTN) | XP_024308868.1:p.Asp21911= |