Linked Data
ClinVar Variation Id:
202693
dbSNP Id:
rs746817480
ExAC:
2:179475006 C / A
gnomAD v2:
2-179475006-C-A
gnomAD v3:
2-178610279-C-A
gnomAD v4:
2-178610279-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178610279C>A , CM000664.2:g.178610279C>A | GRCh38 |
| NC_000002.11:g.179475006C>A , CM000664.1:g.179475006C>A | GRCh37 |
| NC_000002.10:g.179183251C>A | NCBI36 |
| NG_011618.3:g.225524G>T , LRG_391:g.225524G>T | |
| NG_051363.1:g.92453C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43543G>T (TTN) | ENSP00000343764.6:p.Val14515Phe | |
| ENST00000342175.11:c.24628G>T (TTN) | ENSP00000340554.6:p.Val8210Phe | |
| ENST00000359218.10:c.24427G>T (TTN) | ENSP00000352154.5:p.Val8143Phe | |
| ENST00000342175.10:c.24628G>T (TTN) | ENSP00000340554.6:p.Val8210Phe | |
| ENST00000342992.10:c.43543G>T (TTN) | ENSP00000343764.6:p.Val14515Phe | |
| ENST00000359218.9:c.24427G>T (TTN) | ENSP00000352154.5:p.Val8143Phe | |
| ENST00000460472.6:c.24052G>T (TTN) | ENSP00000434586.1:p.Val8018Phe | |
| ENST00000589042.5:c.51247G>T (TTN) MANE Select | ENSP00000467141.1:p.Val17083Phe | |
| ENST00000591111.5:c.46324G>T (TTN) | ENSP00000465570.1:p.Val15442Phe | |
| ENST00000615779.4:c.46324G>T (TTN) | ENSP00000483597.1:p.Val15442Phe | |
| NM_001256850.1:c.46324G>T (TTN) | NP_001243779.1:p.Val15442Phe | |
| NM_001267550.2:c.51247G>T (TTN) MANE Select | NP_001254479.2:p.Val17083Phe | |
| NM_003319.4:c.24052G>T (TTN) | NP_003310.4:p.Val8018Phe | |
| NM_133378.4:c.43543G>T (TTN) | NP_596869.4:p.Val14515Phe | |
| NM_133432.3:c.24427G>T (TTN) | NP_597676.3:p.Val8143Phe | |
| NM_133437.4:c.24628G>T (TTN) | NP_597681.4:p.Val8210Phe | |
| NR_038271.1:n.782+2013C>A (TTN-AS1) | ||
| XM_011511729.1:c.50344G>T (TTN) | XP_011510031.1:p.Val16782Phe | |
| XM_011511730.1:c.24238G>T (TTN) | XP_011510032.1:p.Val8080Phe | |
| XM_011511731.1:c.24097G>T (TTN) | XP_011510033.1:p.Val8033Phe | |
| XM_017004819.1:c.50140G>T (TTN) | XP_016860308.1:p.Val16714Phe | |
| XM_017004820.1:c.45538G>T (TTN) | XP_016860309.1:p.Val15180Phe | |
| XM_017004821.1:c.45535G>T (TTN) | XP_016860310.1:p.Val15179Phe | |
| XM_017004822.1:c.42577G>T (TTN) | XP_016860311.1:p.Val14193Phe | |
| XM_017004823.1:c.24193G>T (TTN) | XP_016860312.1:p.Val8065Phe | |
| XM_024453094.1:c.45688G>T (TTN) | XP_024308862.1:p.Val15230Phe | |
| XM_024453095.1:c.45685G>T (TTN) | XP_024308863.1:p.Val15229Phe | |
| XM_024453096.1:c.45118G>T (TTN) | XP_024308864.1:p.Val15040Phe | |
| XM_024453097.1:c.42460G>T (TTN) | XP_024308865.1:p.Val14154Phe | |
| XM_024453098.1:c.42379G>T (TTN) | XP_024308866.1:p.Val14127Phe | |
| XM_024453099.1:c.24142G>T (TTN) | XP_024308867.1:p.Val8048Phe | |
| XM_024453100.1:c.13996G>T (TTN) | XP_024308868.1:p.Val4666Phe |