Linked Data
ClinVar Variation Id:
191129
dbSNP Id:
rs767837705
ExAC:
2:179407168 G / A
gnomAD v2:
2-179407168-G-A
gnomAD v4:
2-178542441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542441G>A , CM000664.2:g.178542441G>A | GRCh38 |
| NC_000002.11:g.179407168G>A , CM000664.1:g.179407168G>A | GRCh37 |
| NC_000002.10:g.179115414G>A | NCBI36 |
| NG_011618.3:g.293362C>T , LRG_391:g.293362C>T | |
| NG_051363.1:g.24615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89611C>T (TTN) | ENSP00000343764.6:p.Gln29871Ter | |
| ENST00000342175.11:c.70696C>T (TTN) | ENSP00000340554.6:p.Gln23566Ter | |
| ENST00000359218.10:c.70495C>T (TTN) | ENSP00000352154.5:p.Gln23499Ter | |
| ENST00000342175.10:c.70696C>T (TTN) | ENSP00000340554.6:p.Gln23566Ter | |
| ENST00000342992.10:c.89611C>T (TTN) | ENSP00000343764.6:p.Gln29871Ter | |
| ENST00000359218.9:c.70495C>T (TTN) | ENSP00000352154.5:p.Gln23499Ter | |
| ENST00000460472.6:c.70120C>T (TTN) | ENSP00000434586.1:p.Gln23374Ter | |
| ENST00000589042.5:c.97315C>T (TTN) MANE Select | ENSP00000467141.1:p.Gln32439Ter | |
| ENST00000591111.5:c.92392C>T (TTN) | ENSP00000465570.1:p.Gln30798Ter | |
| ENST00000615779.4:c.92392C>T (TTN) | ENSP00000483597.1:p.Gln30798Ter | |
| NM_001256850.1:c.92392C>T (TTN) | NP_001243779.1:p.Gln30798Ter | |
| NM_001267550.2:c.97315C>T (TTN) MANE Select | NP_001254479.2:p.Gln32439Ter | |
| NM_003319.4:c.70120C>T (TTN) | NP_003310.4:p.Gln23374Ter | |
| NM_133378.4:c.89611C>T (TTN) | NP_596869.4:p.Gln29871Ter | |
| NM_133432.3:c.70495C>T (TTN) | NP_597676.3:p.Gln23499Ter | |
| NM_133437.4:c.70696C>T (TTN) | NP_597681.4:p.Gln23566Ter | |
| NR_038271.1:n.446+18805G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+80G>A (TTN-AS1) | ||
| XM_011511729.1:c.96412C>T (TTN) | XP_011510031.1:p.Gln32138Ter | |
| XM_011511730.1:c.70306C>T (TTN) | XP_011510032.1:p.Gln23436Ter | |
| XM_011511731.1:c.70165C>T (TTN) | XP_011510033.1:p.Gln23389Ter | |
| XM_017004819.1:c.96208C>T (TTN) | XP_016860308.1:p.Gln32070Ter | |
| XM_017004820.1:c.91606C>T (TTN) | XP_016860309.1:p.Gln30536Ter | |
| XM_017004821.1:c.91603C>T (TTN) | XP_016860310.1:p.Gln30535Ter | |
| XM_017004822.1:c.88645C>T (TTN) | XP_016860311.1:p.Gln29549Ter | |
| XM_017004823.1:c.70261C>T (TTN) | XP_016860312.1:p.Gln23421Ter | |
| XM_024453094.1:c.91756C>T (TTN) | XP_024308862.1:p.Gln30586Ter | |
| XM_024453095.1:c.91753C>T (TTN) | XP_024308863.1:p.Gln30585Ter | |
| XM_024453096.1:c.91186C>T (TTN) | XP_024308864.1:p.Gln30396Ter | |
| XM_024453097.1:c.88528C>T (TTN) | XP_024308865.1:p.Gln29510Ter | |
| XM_024453098.1:c.88447C>T (TTN) | XP_024308866.1:p.Gln29483Ter | |
| XM_024453099.1:c.70210C>T (TTN) | XP_024308867.1:p.Gln23404Ter | |
| XM_024453100.1:c.60064C>T (TTN) | XP_024308868.1:p.Gln20022Ter |