Linked Data
ClinVar Variation Id:
404878
dbSNP Id:
rs751194376
ExAC:
2:179455379 G / A
gnomAD v2:
2-179455379-G-A
gnomAD v3:
2-178590652-G-A
gnomAD v4:
2-178590652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590652G>A , CM000664.2:g.178590652G>A | GRCh38 |
| NC_000002.11:g.179455379G>A , CM000664.1:g.179455379G>A | GRCh37 |
| NC_000002.10:g.179163625G>A | NCBI36 |
| NG_011618.3:g.245151C>T , LRG_391:g.245151C>T | |
| NG_051363.1:g.72826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53369C>T (TTN) | ENSP00000343764.6:p.Pro17790Leu | |
| ENST00000342175.11:c.34454C>T (TTN) | ENSP00000340554.6:p.Pro11485Leu | |
| ENST00000359218.10:c.34253C>T (TTN) | ENSP00000352154.5:p.Pro11418Leu | |
| ENST00000342175.10:c.34454C>T (TTN) | ENSP00000340554.6:p.Pro11485Leu | |
| ENST00000342992.10:c.53369C>T (TTN) | ENSP00000343764.6:p.Pro17790Leu | |
| ENST00000359218.9:c.34253C>T (TTN) | ENSP00000352154.5:p.Pro11418Leu | |
| ENST00000460472.6:c.33878C>T (TTN) | ENSP00000434586.1:p.Pro11293Leu | |
| ENST00000589042.5:c.61073C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro20358Leu | |
| ENST00000591111.5:c.56150C>T (TTN) | ENSP00000465570.1:p.Pro18717Leu | |
| ENST00000615779.4:c.56150C>T (TTN) | ENSP00000483597.1:p.Pro18717Leu | |
| NM_001256850.1:c.56150C>T (TTN) | NP_001243779.1:p.Pro18717Leu | |
| NM_001267550.2:c.61073C>T (TTN) MANE Select | NP_001254479.2:p.Pro20358Leu | |
| NM_003319.4:c.33878C>T (TTN) | NP_003310.4:p.Pro11293Leu | |
| NM_133378.4:c.53369C>T (TTN) | NP_596869.4:p.Pro17790Leu | |
| NM_133432.3:c.34253C>T (TTN) | NP_597676.3:p.Pro11418Leu | |
| NM_133437.4:c.34454C>T (TTN) | NP_597681.4:p.Pro11485Leu | |
| NR_038271.1:n.597-6944G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-487G>A (TTN-AS1) | ||
| XM_011511729.1:c.60170C>T (TTN) | XP_011510031.1:p.Pro20057Leu | |
| XM_011511730.1:c.34064C>T (TTN) | XP_011510032.1:p.Pro11355Leu | |
| XM_011511731.1:c.33923C>T (TTN) | XP_011510033.1:p.Pro11308Leu | |
| XM_017004819.1:c.59966C>T (TTN) | XP_016860308.1:p.Pro19989Leu | |
| XM_017004820.1:c.55364C>T (TTN) | XP_016860309.1:p.Pro18455Leu | |
| XM_017004821.1:c.55361C>T (TTN) | XP_016860310.1:p.Pro18454Leu | |
| XM_017004822.1:c.52403C>T (TTN) | XP_016860311.1:p.Pro17468Leu | |
| XM_017004823.1:c.34019C>T (TTN) | XP_016860312.1:p.Pro11340Leu | |
| XM_024453094.1:c.55514C>T (TTN) | XP_024308862.1:p.Pro18505Leu | |
| XM_024453095.1:c.55511C>T (TTN) | XP_024308863.1:p.Pro18504Leu | |
| XM_024453096.1:c.54944C>T (TTN) | XP_024308864.1:p.Pro18315Leu | |
| XM_024453097.1:c.52286C>T (TTN) | XP_024308865.1:p.Pro17429Leu | |
| XM_024453098.1:c.52205C>T (TTN) | XP_024308866.1:p.Pro17402Leu | |
| XM_024453099.1:c.33968C>T (TTN) | XP_024308867.1:p.Pro11323Leu | |
| XM_024453100.1:c.23822C>T (TTN) | XP_024308868.1:p.Pro7941Leu |