Linked Data
ClinVar Variation Id:
466707
dbSNP Id:
rs750864230
ExAC:
2:179398590 A / T
gnomAD v2:
2-179398590-A-T
gnomAD v3:
2-178533863-A-T
gnomAD v4:
2-178533863-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533863A>T , CM000664.2:g.178533863A>T | GRCh38 |
| NC_000002.11:g.179398590A>T , CM000664.1:g.179398590A>T | GRCh37 |
| NC_000002.10:g.179106836A>T | NCBI36 |
| NG_011618.3:g.301940T>A , LRG_391:g.301940T>A | |
| NG_051363.1:g.16037A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95048T>A (TTN) | ENSP00000343764.6:p.Met31683Lys | |
| ENST00000342175.11:c.76133T>A (TTN) | ENSP00000340554.6:p.Met25378Lys | |
| ENST00000359218.10:c.75932T>A (TTN) | ENSP00000352154.5:p.Met25311Lys | |
| ENST00000342175.10:c.76133T>A (TTN) | ENSP00000340554.6:p.Met25378Lys | |
| ENST00000342992.10:c.95048T>A (TTN) | ENSP00000343764.6:p.Met31683Lys | |
| ENST00000359218.9:c.75932T>A (TTN) | ENSP00000352154.5:p.Met25311Lys | |
| ENST00000460472.6:c.75557T>A (TTN) | ENSP00000434586.1:p.Met25186Lys | |
| ENST00000589042.5:c.102752T>A (TTN) MANE Select | ENSP00000467141.1:p.Met34251Lys | |
| ENST00000591111.5:c.97829T>A (TTN) | ENSP00000465570.1:p.Met32610Lys | |
| ENST00000615779.4:c.97829T>A (TTN) | ENSP00000483597.1:p.Met32610Lys | |
| NM_001256850.1:c.97829T>A (TTN) | NP_001243779.1:p.Met32610Lys | |
| NM_001267550.2:c.102752T>A (TTN) MANE Select | NP_001254479.2:p.Met34251Lys | |
| NM_003319.4:c.75557T>A (TTN) | NP_003310.4:p.Met25186Lys | |
| NM_133378.4:c.95048T>A (TTN) | NP_596869.4:p.Met31683Lys | |
| NM_133432.3:c.75932T>A (TTN) | NP_597676.3:p.Met25311Lys | |
| NM_133437.4:c.76133T>A (TTN) | NP_597681.4:p.Met25378Lys | |
| NR_038271.1:n.446+10227A>T (TTN-AS1) | ||
| NR_038272.1:n.220-1869A>T (TTN-AS1) | ||
| XM_011511729.1:c.101849T>A (TTN) | XP_011510031.1:p.Met33950Lys | |
| XM_011511730.1:c.75743T>A (TTN) | XP_011510032.1:p.Met25248Lys | |
| XM_011511731.1:c.75602T>A (TTN) | XP_011510033.1:p.Met25201Lys | |
| XM_017004819.1:c.101645T>A (TTN) | XP_016860308.1:p.Met33882Lys | |
| XM_017004820.1:c.97043T>A (TTN) | XP_016860309.1:p.Met32348Lys | |
| XM_017004821.1:c.97040T>A (TTN) | XP_016860310.1:p.Met32347Lys | |
| XM_017004822.1:c.94082T>A (TTN) | XP_016860311.1:p.Met31361Lys | |
| XM_017004823.1:c.75698T>A (TTN) | XP_016860312.1:p.Met25233Lys | |
| XM_024453094.1:c.97193T>A (TTN) | XP_024308862.1:p.Met32398Lys | |
| XM_024453095.1:c.97190T>A (TTN) | XP_024308863.1:p.Met32397Lys | |
| XM_024453096.1:c.96623T>A (TTN) | XP_024308864.1:p.Met32208Lys | |
| XM_024453097.1:c.93965T>A (TTN) | XP_024308865.1:p.Met31322Lys | |
| XM_024453098.1:c.93884T>A (TTN) | XP_024308866.1:p.Met31295Lys | |
| XM_024453099.1:c.75647T>A (TTN) | XP_024308867.1:p.Met25216Lys | |
| XM_024453100.1:c.65501T>A (TTN) | XP_024308868.1:p.Met21834Lys |