Linked Data
ClinVar Variation Id:
196077
dbSNP Id:
rs142004835
ExAC:
2:179430332 A / G
gnomAD v2:
2-179430332-A-G
gnomAD v3:
2-178565605-A-G
gnomAD v4:
2-178565605-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565605A>G , CM000664.2:g.178565605A>G | GRCh38 |
| NC_000002.11:g.179430332A>G , CM000664.1:g.179430332A>G | GRCh37 |
| NC_000002.10:g.179138578A>G | NCBI36 |
| NG_011618.3:g.270198T>C , LRG_391:g.270198T>C | |
| NG_051363.1:g.47779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72823T>C (TTN) | ENSP00000343764.6:p.Leu24275= | |
| ENST00000342175.11:c.53908T>C (TTN) | ENSP00000340554.6:p.Leu17970= | |
| ENST00000359218.10:c.53707T>C (TTN) | ENSP00000352154.5:p.Leu17903= | |
| ENST00000342175.10:c.53908T>C (TTN) | ENSP00000340554.6:p.Leu17970= | |
| ENST00000342992.10:c.72823T>C (TTN) | ENSP00000343764.6:p.Leu24275= | |
| ENST00000359218.9:c.53707T>C (TTN) | ENSP00000352154.5:p.Leu17903= | |
| ENST00000460472.6:c.53332T>C (TTN) | ENSP00000434586.1:p.Leu17778= | |
| ENST00000589042.5:c.80527T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu26843= | |
| ENST00000591111.5:c.75604T>C (TTN) | ENSP00000465570.1:p.Leu25202= | |
| ENST00000615779.4:c.75604T>C (TTN) | ENSP00000483597.1:p.Leu25202= | |
| NM_001256850.1:c.75604T>C (TTN) | NP_001243779.1:p.Leu25202= | |
| NM_001267550.2:c.80527T>C (TTN) MANE Select | NP_001254479.2:p.Leu26843= | |
| NM_003319.4:c.53332T>C (TTN) | NP_003310.4:p.Leu17778= | |
| NM_133378.4:c.72823T>C (TTN) | NP_596869.4:p.Leu24275= | |
| NM_133432.3:c.53707T>C (TTN) | NP_597676.3:p.Leu17903= | |
| NM_133437.4:c.53908T>C (TTN) | NP_597681.4:p.Leu17970= | |
| NR_038271.1:n.447-5695A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-16967A>G (TTN-AS1) | ||
| XM_011511729.1:c.79624T>C (TTN) | XP_011510031.1:p.Leu26542= | |
| XM_011511730.1:c.53518T>C (TTN) | XP_011510032.1:p.Leu17840= | |
| XM_011511731.1:c.53377T>C (TTN) | XP_011510033.1:p.Leu17793= | |
| XM_017004819.1:c.79420T>C (TTN) | XP_016860308.1:p.Leu26474= | |
| XM_017004820.1:c.74818T>C (TTN) | XP_016860309.1:p.Leu24940= | |
| XM_017004821.1:c.74815T>C (TTN) | XP_016860310.1:p.Leu24939= | |
| XM_017004822.1:c.71857T>C (TTN) | XP_016860311.1:p.Leu23953= | |
| XM_017004823.1:c.53473T>C (TTN) | XP_016860312.1:p.Leu17825= | |
| XM_024453094.1:c.74968T>C (TTN) | XP_024308862.1:p.Leu24990= | |
| XM_024453095.1:c.74965T>C (TTN) | XP_024308863.1:p.Leu24989= | |
| XM_024453096.1:c.74398T>C (TTN) | XP_024308864.1:p.Leu24800= | |
| XM_024453097.1:c.71740T>C (TTN) | XP_024308865.1:p.Leu23914= | |
| XM_024453098.1:c.71659T>C (TTN) | XP_024308866.1:p.Leu23887= | |
| XM_024453099.1:c.53422T>C (TTN) | XP_024308867.1:p.Leu17808= | |
| XM_024453100.1:c.43276T>C (TTN) | XP_024308868.1:p.Leu14426= |