Linked Data
ClinVar Variation Id:
195845
dbSNP Id:
rs377180286
ExAC:
2:179457530 C / T
gnomAD v2:
2-179457530-C-T
gnomAD v3:
2-178592803-C-T
gnomAD v4:
2-178592803-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592803C>T , CM000664.2:g.178592803C>T | GRCh38 |
| NC_000002.11:g.179457530C>T , CM000664.1:g.179457530C>T | GRCh37 |
| NC_000002.10:g.179165776C>T | NCBI36 |
| NG_011618.3:g.243000G>A , LRG_391:g.243000G>A | |
| NG_051363.1:g.74977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51612G>A (TTN) | ENSP00000343764.6:p.Pro17204= | |
| ENST00000342175.11:c.32697G>A (TTN) | ENSP00000340554.6:p.Pro10899= | |
| ENST00000359218.10:c.32496G>A (TTN) | ENSP00000352154.5:p.Pro10832= | |
| ENST00000342175.10:c.32697G>A (TTN) | ENSP00000340554.6:p.Pro10899= | |
| ENST00000342992.10:c.51612G>A (TTN) | ENSP00000343764.6:p.Pro17204= | |
| ENST00000359218.9:c.32496G>A (TTN) | ENSP00000352154.5:p.Pro10832= | |
| ENST00000460472.6:c.32121G>A (TTN) | ENSP00000434586.1:p.Pro10707= | |
| ENST00000589042.5:c.59316G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro19772= | |
| ENST00000591111.5:c.54393G>A (TTN) | ENSP00000465570.1:p.Pro18131= | |
| ENST00000615779.4:c.54393G>A (TTN) | ENSP00000483597.1:p.Pro18131= | |
| NM_001256850.1:c.54393G>A (TTN) | NP_001243779.1:p.Pro18131= | |
| NM_001267550.2:c.59316G>A (TTN) MANE Select | NP_001254479.2:p.Pro19772= | |
| NM_003319.4:c.32121G>A (TTN) | NP_003310.4:p.Pro10707= | |
| NM_133378.4:c.51612G>A (TTN) | NP_596869.4:p.Pro17204= | |
| NM_133432.3:c.32496G>A (TTN) | NP_597676.3:p.Pro10832= | |
| NM_133437.4:c.32697G>A (TTN) | NP_597681.4:p.Pro10899= | |
| NR_038271.1:n.597-4793C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1489C>T (TTN-AS1) | ||
| XM_011511729.1:c.58413G>A (TTN) | XP_011510031.1:p.Pro19471= | |
| XM_011511730.1:c.32307G>A (TTN) | XP_011510032.1:p.Pro10769= | |
| XM_011511731.1:c.32166G>A (TTN) | XP_011510033.1:p.Pro10722= | |
| XM_017004819.1:c.58209G>A (TTN) | XP_016860308.1:p.Pro19403= | |
| XM_017004820.1:c.53607G>A (TTN) | XP_016860309.1:p.Pro17869= | |
| XM_017004821.1:c.53604G>A (TTN) | XP_016860310.1:p.Pro17868= | |
| XM_017004822.1:c.50646G>A (TTN) | XP_016860311.1:p.Pro16882= | |
| XM_017004823.1:c.32262G>A (TTN) | XP_016860312.1:p.Pro10754= | |
| XM_024453094.1:c.53757G>A (TTN) | XP_024308862.1:p.Pro17919= | |
| XM_024453095.1:c.53754G>A (TTN) | XP_024308863.1:p.Pro17918= | |
| XM_024453096.1:c.53187G>A (TTN) | XP_024308864.1:p.Pro17729= | |
| XM_024453097.1:c.50529G>A (TTN) | XP_024308865.1:p.Pro16843= | |
| XM_024453098.1:c.50448G>A (TTN) | XP_024308866.1:p.Pro16816= | |
| XM_024453099.1:c.32211G>A (TTN) | XP_024308867.1:p.Pro10737= | |
| XM_024453100.1:c.22065G>A (TTN) | XP_024308868.1:p.Pro7355= |