Linked Data
ClinVar Variation Id:
516026
dbSNP Id:
rs369087584
ExAC:
2:179409072 T / C
gnomAD v2:
2-179409072-T-C
gnomAD v3:
2-178544345-T-C
gnomAD v4:
2-178544345-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544345T>C , CM000664.2:g.178544345T>C | GRCh38 |
| NC_000002.11:g.179409072T>C , CM000664.1:g.179409072T>C | GRCh37 |
| NC_000002.10:g.179117318T>C | NCBI36 |
| NG_011618.3:g.291458A>G , LRG_391:g.291458A>G | |
| NG_051363.1:g.26519T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88180A>G (TTN) | ENSP00000343764.6:p.Asn29394Asp | |
| ENST00000342175.11:c.69265A>G (TTN) | ENSP00000340554.6:p.Asn23089Asp | |
| ENST00000359218.10:c.69064A>G (TTN) | ENSP00000352154.5:p.Asn23022Asp | |
| ENST00000342175.10:c.69265A>G (TTN) | ENSP00000340554.6:p.Asn23089Asp | |
| ENST00000342992.10:c.88180A>G (TTN) | ENSP00000343764.6:p.Asn29394Asp | |
| ENST00000359218.9:c.69064A>G (TTN) | ENSP00000352154.5:p.Asn23022Asp | |
| ENST00000460472.6:c.68689A>G (TTN) | ENSP00000434586.1:p.Asn22897Asp | |
| ENST00000589042.5:c.95884A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn31962Asp | |
| ENST00000591111.5:c.90961A>G (TTN) | ENSP00000465570.1:p.Asn30321Asp | |
| ENST00000615779.4:c.90961A>G (TTN) | ENSP00000483597.1:p.Asn30321Asp | |
| NM_001256850.1:c.90961A>G (TTN) | NP_001243779.1:p.Asn30321Asp | |
| NM_001267550.2:c.95884A>G (TTN) MANE Select | NP_001254479.2:p.Asn31962Asp | |
| NM_003319.4:c.68689A>G (TTN) | NP_003310.4:p.Asn22897Asp | |
| NM_133378.4:c.88180A>G (TTN) | NP_596869.4:p.Asn29394Asp | |
| NM_133432.3:c.69064A>G (TTN) | NP_597676.3:p.Asn23022Asp | |
| NM_133437.4:c.69265A>G (TTN) | NP_597681.4:p.Asn23089Asp | |
| NR_038271.1:n.446+20709T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1984T>C (TTN-AS1) | ||
| XM_011511729.1:c.94981A>G (TTN) | XP_011510031.1:p.Asn31661Asp | |
| XM_011511730.1:c.68875A>G (TTN) | XP_011510032.1:p.Asn22959Asp | |
| XM_011511731.1:c.68734A>G (TTN) | XP_011510033.1:p.Asn22912Asp | |
| XM_017004819.1:c.94777A>G (TTN) | XP_016860308.1:p.Asn31593Asp | |
| XM_017004820.1:c.90175A>G (TTN) | XP_016860309.1:p.Asn30059Asp | |
| XM_017004821.1:c.90172A>G (TTN) | XP_016860310.1:p.Asn30058Asp | |
| XM_017004822.1:c.87214A>G (TTN) | XP_016860311.1:p.Asn29072Asp | |
| XM_017004823.1:c.68830A>G (TTN) | XP_016860312.1:p.Asn22944Asp | |
| XM_024453094.1:c.90325A>G (TTN) | XP_024308862.1:p.Asn30109Asp | |
| XM_024453095.1:c.90322A>G (TTN) | XP_024308863.1:p.Asn30108Asp | |
| XM_024453096.1:c.89755A>G (TTN) | XP_024308864.1:p.Asn29919Asp | |
| XM_024453097.1:c.87097A>G (TTN) | XP_024308865.1:p.Asn29033Asp | |
| XM_024453098.1:c.87016A>G (TTN) | XP_024308866.1:p.Asn29006Asp | |
| XM_024453099.1:c.68779A>G (TTN) | XP_024308867.1:p.Asn22927Asp | |
| XM_024453100.1:c.58633A>G (TTN) | XP_024308868.1:p.Asn19545Asp |