Linked Data
ClinVar Variation Id:
179667
dbSNP Id:
rs727505036
ExAC:
2:179446747 C / T
gnomAD v2:
2-179446747-C-T
gnomAD v3:
2-178582020-C-T
gnomAD v4:
2-178582020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582020C>T , CM000664.2:g.178582020C>T | GRCh38 |
| NC_000002.11:g.179446747C>T , CM000664.1:g.179446747C>T | GRCh37 |
| NC_000002.10:g.179154993C>T | NCBI36 |
| NG_011618.3:g.253783G>A , LRG_391:g.253783G>A | |
| NG_051363.1:g.64194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58645G>A (TTN) | ENSP00000343764.6:p.Ala19549Thr | |
| ENST00000342175.11:c.39730G>A (TTN) | ENSP00000340554.6:p.Ala13244Thr | |
| ENST00000359218.10:c.39529G>A (TTN) | ENSP00000352154.5:p.Ala13177Thr | |
| ENST00000342175.10:c.39730G>A (TTN) | ENSP00000340554.6:p.Ala13244Thr | |
| ENST00000342992.10:c.58645G>A (TTN) | ENSP00000343764.6:p.Ala19549Thr | |
| ENST00000359218.9:c.39529G>A (TTN) | ENSP00000352154.5:p.Ala13177Thr | |
| ENST00000460472.6:c.39154G>A (TTN) | ENSP00000434586.1:p.Ala13052Thr | |
| ENST00000589042.5:c.66349G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala22117Thr | |
| ENST00000591111.5:c.61426G>A (TTN) | ENSP00000465570.1:p.Ala20476Thr | |
| ENST00000615779.4:c.61426G>A (TTN) | ENSP00000483597.1:p.Ala20476Thr | |
| NM_001256850.1:c.61426G>A (TTN) | NP_001243779.1:p.Ala20476Thr | |
| NM_001267550.2:c.66349G>A (TTN) MANE Select | NP_001254479.2:p.Ala22117Thr | |
| NM_003319.4:c.39154G>A (TTN) | NP_003310.4:p.Ala13052Thr | |
| NM_133378.4:c.58645G>A (TTN) | NP_596869.4:p.Ala19549Thr | |
| NM_133432.3:c.39529G>A (TTN) | NP_597676.3:p.Ala13177Thr | |
| NM_133437.4:c.39730G>A (TTN) | NP_597681.4:p.Ala13244Thr | |
| NR_038271.1:n.596+10571C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-552C>T (TTN-AS1) | ||
| XM_011511729.1:c.65446G>A (TTN) | XP_011510031.1:p.Ala21816Thr | |
| XM_011511730.1:c.39340G>A (TTN) | XP_011510032.1:p.Ala13114Thr | |
| XM_011511731.1:c.39199G>A (TTN) | XP_011510033.1:p.Ala13067Thr | |
| XM_017004819.1:c.65242G>A (TTN) | XP_016860308.1:p.Ala21748Thr | |
| XM_017004820.1:c.60640G>A (TTN) | XP_016860309.1:p.Ala20214Thr | |
| XM_017004821.1:c.60637G>A (TTN) | XP_016860310.1:p.Ala20213Thr | |
| XM_017004822.1:c.57679G>A (TTN) | XP_016860311.1:p.Ala19227Thr | |
| XM_017004823.1:c.39295G>A (TTN) | XP_016860312.1:p.Ala13099Thr | |
| XM_024453094.1:c.60790G>A (TTN) | XP_024308862.1:p.Ala20264Thr | |
| XM_024453095.1:c.60787G>A (TTN) | XP_024308863.1:p.Ala20263Thr | |
| XM_024453096.1:c.60220G>A (TTN) | XP_024308864.1:p.Ala20074Thr | |
| XM_024453097.1:c.57562G>A (TTN) | XP_024308865.1:p.Ala19188Thr | |
| XM_024453098.1:c.57481G>A (TTN) | XP_024308866.1:p.Ala19161Thr | |
| XM_024453099.1:c.39244G>A (TTN) | XP_024308867.1:p.Ala13082Thr | |
| XM_024453100.1:c.29098G>A (TTN) | XP_024308868.1:p.Ala9700Thr |