Linked Data
ClinVar Variation Id:
167753
dbSNP Id:
rs372521529
ExAC:
2:179395466 C / T
gnomAD v2:
2-179395466-C-T
gnomAD v3:
2-178530739-C-T
gnomAD v4:
2-178530739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530739C>T , CM000664.2:g.178530739C>T | GRCh38 |
| NC_000002.11:g.179395466C>T , CM000664.1:g.179395466C>T | GRCh37 |
| NC_000002.10:g.179103712C>T | NCBI36 |
| NG_011618.3:g.305064G>A , LRG_391:g.305064G>A | |
| NG_051363.1:g.12913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98172G>A (TTN) | ENSP00000343764.6:p.Leu32724= | |
| ENST00000342175.11:c.79257G>A (TTN) | ENSP00000340554.6:p.Leu26419= | |
| ENST00000359218.10:c.79056G>A (TTN) | ENSP00000352154.5:p.Leu26352= | |
| ENST00000342175.10:c.79257G>A (TTN) | ENSP00000340554.6:p.Leu26419= | |
| ENST00000342992.10:c.98172G>A (TTN) | ENSP00000343764.6:p.Leu32724= | |
| ENST00000359218.9:c.79056G>A (TTN) | ENSP00000352154.5:p.Leu26352= | |
| ENST00000460472.6:c.78681G>A (TTN) | ENSP00000434586.1:p.Leu26227= | |
| ENST00000589042.5:c.105876G>A (TTN) MANE Select | ENSP00000467141.1:p.Leu35292= | |
| ENST00000591111.5:c.100953G>A (TTN) | ENSP00000465570.1:p.Leu33651= | |
| ENST00000615779.4:c.100953G>A (TTN) | ENSP00000483597.1:p.Leu33651= | |
| NM_001256850.1:c.100953G>A (TTN) | NP_001243779.1:p.Leu33651= | |
| NM_001267550.2:c.105876G>A (TTN) MANE Select | NP_001254479.2:p.Leu35292= | |
| NM_003319.4:c.78681G>A (TTN) | NP_003310.4:p.Leu26227= | |
| NM_133378.4:c.98172G>A (TTN) | NP_596869.4:p.Leu32724= | |
| NM_133432.3:c.79056G>A (TTN) | NP_597676.3:p.Leu26352= | |
| NM_133437.4:c.79257G>A (TTN) | NP_597681.4:p.Leu26419= | |
| NR_038271.1:n.446+7103C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4993C>T (TTN-AS1) | ||
| XM_011511729.1:c.104973G>A (TTN) | XP_011510031.1:p.Leu34991= | |
| XM_011511730.1:c.78867G>A (TTN) | XP_011510032.1:p.Leu26289= | |
| XM_011511731.1:c.78726G>A (TTN) | XP_011510033.1:p.Leu26242= | |
| XM_017004819.1:c.104769G>A (TTN) | XP_016860308.1:p.Leu34923= | |
| XM_017004820.1:c.100167G>A (TTN) | XP_016860309.1:p.Leu33389= | |
| XM_017004821.1:c.100164G>A (TTN) | XP_016860310.1:p.Leu33388= | |
| XM_017004822.1:c.97206G>A (TTN) | XP_016860311.1:p.Leu32402= | |
| XM_017004823.1:c.78822G>A (TTN) | XP_016860312.1:p.Leu26274= | |
| XM_024453094.1:c.100317G>A (TTN) | XP_024308862.1:p.Leu33439= | |
| XM_024453095.1:c.100314G>A (TTN) | XP_024308863.1:p.Leu33438= | |
| XM_024453096.1:c.99747G>A (TTN) | XP_024308864.1:p.Leu33249= | |
| XM_024453097.1:c.97089G>A (TTN) | XP_024308865.1:p.Leu32363= | |
| XM_024453098.1:c.97008G>A (TTN) | XP_024308866.1:p.Leu32336= | |
| XM_024453099.1:c.78771G>A (TTN) | XP_024308867.1:p.Leu26257= | |
| XM_024453100.1:c.68625G>A (TTN) | XP_024308868.1:p.Leu22875= |