Linked Data
ClinVar Variation Id:
96317
dbSNP Id:
rs183620684
ExAC:
2:179408941 G / A
gnomAD v2:
2-179408941-G-A
gnomAD v3:
2-178544214-G-A
gnomAD v4:
2-178544214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544214G>A , CM000664.2:g.178544214G>A | GRCh38 |
| NC_000002.11:g.179408941G>A , CM000664.1:g.179408941G>A | GRCh37 |
| NC_000002.10:g.179117187G>A | NCBI36 |
| NG_011618.3:g.291589C>T , LRG_391:g.291589C>T | |
| NG_051363.1:g.26388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88311C>T (TTN) | ENSP00000343764.6:p.Pro29437= | |
| ENST00000342175.11:c.69396C>T (TTN) | ENSP00000340554.6:p.Pro23132= | |
| ENST00000359218.10:c.69195C>T (TTN) | ENSP00000352154.5:p.Pro23065= | |
| ENST00000342175.10:c.69396C>T (TTN) | ENSP00000340554.6:p.Pro23132= | |
| ENST00000342992.10:c.88311C>T (TTN) | ENSP00000343764.6:p.Pro29437= | |
| ENST00000359218.9:c.69195C>T (TTN) | ENSP00000352154.5:p.Pro23065= | |
| ENST00000460472.6:c.68820C>T (TTN) | ENSP00000434586.1:p.Pro22940= | |
| ENST00000589042.5:c.96015C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro32005= | |
| ENST00000591111.5:c.91092C>T (TTN) | ENSP00000465570.1:p.Pro30364= | |
| ENST00000615779.4:c.91092C>T (TTN) | ENSP00000483597.1:p.Pro30364= | |
| NM_001256850.1:c.91092C>T (TTN) | NP_001243779.1:p.Pro30364= | |
| NM_001267550.2:c.96015C>T (TTN) MANE Select | NP_001254479.2:p.Pro32005= | |
| NM_003319.4:c.68820C>T (TTN) | NP_003310.4:p.Pro22940= | |
| NM_133378.4:c.88311C>T (TTN) | NP_596869.4:p.Pro29437= | |
| NM_133432.3:c.69195C>T (TTN) | NP_597676.3:p.Pro23065= | |
| NM_133437.4:c.69396C>T (TTN) | NP_597681.4:p.Pro23132= | |
| NR_038271.1:n.446+20578G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1853G>A (TTN-AS1) | ||
| XM_011511729.1:c.95112C>T (TTN) | XP_011510031.1:p.Pro31704= | |
| XM_011511730.1:c.69006C>T (TTN) | XP_011510032.1:p.Pro23002= | |
| XM_011511731.1:c.68865C>T (TTN) | XP_011510033.1:p.Pro22955= | |
| XM_017004819.1:c.94908C>T (TTN) | XP_016860308.1:p.Pro31636= | |
| XM_017004820.1:c.90306C>T (TTN) | XP_016860309.1:p.Pro30102= | |
| XM_017004821.1:c.90303C>T (TTN) | XP_016860310.1:p.Pro30101= | |
| XM_017004822.1:c.87345C>T (TTN) | XP_016860311.1:p.Pro29115= | |
| XM_017004823.1:c.68961C>T (TTN) | XP_016860312.1:p.Pro22987= | |
| XM_024453094.1:c.90456C>T (TTN) | XP_024308862.1:p.Pro30152= | |
| XM_024453095.1:c.90453C>T (TTN) | XP_024308863.1:p.Pro30151= | |
| XM_024453096.1:c.89886C>T (TTN) | XP_024308864.1:p.Pro29962= | |
| XM_024453097.1:c.87228C>T (TTN) | XP_024308865.1:p.Pro29076= | |
| XM_024453098.1:c.87147C>T (TTN) | XP_024308866.1:p.Pro29049= | |
| XM_024453099.1:c.68910C>T (TTN) | XP_024308867.1:p.Pro22970= | |
| XM_024453100.1:c.58764C>T (TTN) | XP_024308868.1:p.Pro19588= |