Linked Data
ClinVar Variation Id:
501630
dbSNP Id:
rs372309164
ExAC:
2:179438501 G / A
gnomAD v2:
2-179438501-G-A
gnomAD v3:
2-178573774-G-A
gnomAD v4:
2-178573774-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573774G>A , CM000664.2:g.178573774G>A | GRCh38 |
| NC_000002.11:g.179438501G>A , CM000664.1:g.179438501G>A | GRCh37 |
| NC_000002.10:g.179146747G>A | NCBI36 |
| NG_011618.3:g.262029C>T , LRG_391:g.262029C>T | |
| NG_051363.1:g.55948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64654C>T (TTN) | ENSP00000343764.6:p.Leu21552Phe | |
| ENST00000342175.11:c.45739C>T (TTN) | ENSP00000340554.6:p.Leu15247Phe | |
| ENST00000359218.10:c.45538C>T (TTN) | ENSP00000352154.5:p.Leu15180Phe | |
| ENST00000342175.10:c.45739C>T (TTN) | ENSP00000340554.6:p.Leu15247Phe | |
| ENST00000342992.10:c.64654C>T (TTN) | ENSP00000343764.6:p.Leu21552Phe | |
| ENST00000359218.9:c.45538C>T (TTN) | ENSP00000352154.5:p.Leu15180Phe | |
| ENST00000460472.6:c.45163C>T (TTN) | ENSP00000434586.1:p.Leu15055Phe | |
| ENST00000589042.5:c.72358C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu24120Phe | |
| ENST00000591111.5:c.67435C>T (TTN) | ENSP00000465570.1:p.Leu22479Phe | |
| ENST00000615779.4:c.67435C>T (TTN) | ENSP00000483597.1:p.Leu22479Phe | |
| NM_001256850.1:c.67435C>T (TTN) | NP_001243779.1:p.Leu22479Phe | |
| NM_001267550.2:c.72358C>T (TTN) MANE Select | NP_001254479.2:p.Leu24120Phe | |
| NM_003319.4:c.45163C>T (TTN) | NP_003310.4:p.Leu15055Phe | |
| NM_133378.4:c.64654C>T (TTN) | NP_596869.4:p.Leu21552Phe | |
| NM_133432.3:c.45538C>T (TTN) | NP_597676.3:p.Leu15180Phe | |
| NM_133437.4:c.45739C>T (TTN) | NP_597681.4:p.Leu15247Phe | |
| NR_038271.1:n.596+2325G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-8798G>A (TTN-AS1) | ||
| XM_011511729.1:c.71455C>T (TTN) | XP_011510031.1:p.Leu23819Phe | |
| XM_011511730.1:c.45349C>T (TTN) | XP_011510032.1:p.Leu15117Phe | |
| XM_011511731.1:c.45208C>T (TTN) | XP_011510033.1:p.Leu15070Phe | |
| XM_017004819.1:c.71251C>T (TTN) | XP_016860308.1:p.Leu23751Phe | |
| XM_017004820.1:c.66649C>T (TTN) | XP_016860309.1:p.Leu22217Phe | |
| XM_017004821.1:c.66646C>T (TTN) | XP_016860310.1:p.Leu22216Phe | |
| XM_017004822.1:c.63688C>T (TTN) | XP_016860311.1:p.Leu21230Phe | |
| XM_017004823.1:c.45304C>T (TTN) | XP_016860312.1:p.Leu15102Phe | |
| XM_024453094.1:c.66799C>T (TTN) | XP_024308862.1:p.Leu22267Phe | |
| XM_024453095.1:c.66796C>T (TTN) | XP_024308863.1:p.Leu22266Phe | |
| XM_024453096.1:c.66229C>T (TTN) | XP_024308864.1:p.Leu22077Phe | |
| XM_024453097.1:c.63571C>T (TTN) | XP_024308865.1:p.Leu21191Phe | |
| XM_024453098.1:c.63490C>T (TTN) | XP_024308866.1:p.Leu21164Phe | |
| XM_024453099.1:c.45253C>T (TTN) | XP_024308867.1:p.Leu15085Phe | |
| XM_024453100.1:c.35107C>T (TTN) | XP_024308868.1:p.Leu11703Phe |