Linked Data
ClinVar Variation Id:
203088
dbSNP Id:
rs368945564
ExAC:
2:179396364 G / A
gnomAD v2:
2-179396364-G-A
gnomAD v3:
2-178531637-G-A
gnomAD v4:
2-178531637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531637G>A , CM000664.2:g.178531637G>A | GRCh38 |
| NC_000002.11:g.179396364G>A , CM000664.1:g.179396364G>A | GRCh37 |
| NC_000002.10:g.179104610G>A | NCBI36 |
| NG_011618.3:g.304166C>T , LRG_391:g.304166C>T | |
| NG_051363.1:g.13811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97274C>T (TTN) | ENSP00000343764.6:p.Thr32425Met | |
| ENST00000342175.11:c.78359C>T (TTN) | ENSP00000340554.6:p.Thr26120Met | |
| ENST00000359218.10:c.78158C>T (TTN) | ENSP00000352154.5:p.Thr26053Met | |
| ENST00000342175.10:c.78359C>T (TTN) | ENSP00000340554.6:p.Thr26120Met | |
| ENST00000342992.10:c.97274C>T (TTN) | ENSP00000343764.6:p.Thr32425Met | |
| ENST00000359218.9:c.78158C>T (TTN) | ENSP00000352154.5:p.Thr26053Met | |
| ENST00000460472.6:c.77783C>T (TTN) | ENSP00000434586.1:p.Thr25928Met | |
| ENST00000589042.5:c.104978C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr34993Met | |
| ENST00000591111.5:c.100055C>T (TTN) | ENSP00000465570.1:p.Thr33352Met | |
| ENST00000615779.4:c.100055C>T (TTN) | ENSP00000483597.1:p.Thr33352Met | |
| NM_001256850.1:c.100055C>T (TTN) | NP_001243779.1:p.Thr33352Met | |
| NM_001267550.2:c.104978C>T (TTN) MANE Select | NP_001254479.2:p.Thr34993Met | |
| NM_003319.4:c.77783C>T (TTN) | NP_003310.4:p.Thr25928Met | |
| NM_133378.4:c.97274C>T (TTN) | NP_596869.4:p.Thr32425Met | |
| NM_133432.3:c.78158C>T (TTN) | NP_597676.3:p.Thr26053Met | |
| NM_133437.4:c.78359C>T (TTN) | NP_597681.4:p.Thr26120Met | |
| NR_038271.1:n.446+8001G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4095G>A (TTN-AS1) | ||
| XM_011511729.1:c.104075C>T (TTN) | XP_011510031.1:p.Thr34692Met | |
| XM_011511730.1:c.77969C>T (TTN) | XP_011510032.1:p.Thr25990Met | |
| XM_011511731.1:c.77828C>T (TTN) | XP_011510033.1:p.Thr25943Met | |
| XM_017004819.1:c.103871C>T (TTN) | XP_016860308.1:p.Thr34624Met | |
| XM_017004820.1:c.99269C>T (TTN) | XP_016860309.1:p.Thr33090Met | |
| XM_017004821.1:c.99266C>T (TTN) | XP_016860310.1:p.Thr33089Met | |
| XM_017004822.1:c.96308C>T (TTN) | XP_016860311.1:p.Thr32103Met | |
| XM_017004823.1:c.77924C>T (TTN) | XP_016860312.1:p.Thr25975Met | |
| XM_024453094.1:c.99419C>T (TTN) | XP_024308862.1:p.Thr33140Met | |
| XM_024453095.1:c.99416C>T (TTN) | XP_024308863.1:p.Thr33139Met | |
| XM_024453096.1:c.98849C>T (TTN) | XP_024308864.1:p.Thr32950Met | |
| XM_024453097.1:c.96191C>T (TTN) | XP_024308865.1:p.Thr32064Met | |
| XM_024453098.1:c.96110C>T (TTN) | XP_024308866.1:p.Thr32037Met | |
| XM_024453099.1:c.77873C>T (TTN) | XP_024308867.1:p.Thr25958Met | |
| XM_024453100.1:c.67727C>T (TTN) | XP_024308868.1:p.Thr22576Met |