Linked Data
ClinVar Variation Id:
413061
dbSNP Id:
rs369405564
ExAC:
2:179408995 G / A
gnomAD v2:
2-179408995-G-A
gnomAD v3:
2-178544268-G-A
gnomAD v4:
2-178544268-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544268G>A , CM000664.2:g.178544268G>A | GRCh38 |
| NC_000002.11:g.179408995G>A , CM000664.1:g.179408995G>A | GRCh37 |
| NC_000002.10:g.179117241G>A | NCBI36 |
| NG_011618.3:g.291535C>T , LRG_391:g.291535C>T | |
| NG_051363.1:g.26442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88257C>T (TTN) | ENSP00000343764.6:p.Ala29419= | |
| ENST00000342175.11:c.69342C>T (TTN) | ENSP00000340554.6:p.Ala23114= | |
| ENST00000359218.10:c.69141C>T (TTN) | ENSP00000352154.5:p.Ala23047= | |
| ENST00000342175.10:c.69342C>T (TTN) | ENSP00000340554.6:p.Ala23114= | |
| ENST00000342992.10:c.88257C>T (TTN) | ENSP00000343764.6:p.Ala29419= | |
| ENST00000359218.9:c.69141C>T (TTN) | ENSP00000352154.5:p.Ala23047= | |
| ENST00000460472.6:c.68766C>T (TTN) | ENSP00000434586.1:p.Ala22922= | |
| ENST00000589042.5:c.95961C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala31987= | |
| ENST00000591111.5:c.91038C>T (TTN) | ENSP00000465570.1:p.Ala30346= | |
| ENST00000615779.4:c.91038C>T (TTN) | ENSP00000483597.1:p.Ala30346= | |
| NM_001256850.1:c.91038C>T (TTN) | NP_001243779.1:p.Ala30346= | |
| NM_001267550.2:c.95961C>T (TTN) MANE Select | NP_001254479.2:p.Ala31987= | |
| NM_003319.4:c.68766C>T (TTN) | NP_003310.4:p.Ala22922= | |
| NM_133378.4:c.88257C>T (TTN) | NP_596869.4:p.Ala29419= | |
| NM_133432.3:c.69141C>T (TTN) | NP_597676.3:p.Ala23047= | |
| NM_133437.4:c.69342C>T (TTN) | NP_597681.4:p.Ala23114= | |
| NR_038271.1:n.446+20632G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1907G>A (TTN-AS1) | ||
| XM_011511729.1:c.95058C>T (TTN) | XP_011510031.1:p.Ala31686= | |
| XM_011511730.1:c.68952C>T (TTN) | XP_011510032.1:p.Ala22984= | |
| XM_011511731.1:c.68811C>T (TTN) | XP_011510033.1:p.Ala22937= | |
| XM_017004819.1:c.94854C>T (TTN) | XP_016860308.1:p.Ala31618= | |
| XM_017004820.1:c.90252C>T (TTN) | XP_016860309.1:p.Ala30084= | |
| XM_017004821.1:c.90249C>T (TTN) | XP_016860310.1:p.Ala30083= | |
| XM_017004822.1:c.87291C>T (TTN) | XP_016860311.1:p.Ala29097= | |
| XM_017004823.1:c.68907C>T (TTN) | XP_016860312.1:p.Ala22969= | |
| XM_024453094.1:c.90402C>T (TTN) | XP_024308862.1:p.Ala30134= | |
| XM_024453095.1:c.90399C>T (TTN) | XP_024308863.1:p.Ala30133= | |
| XM_024453096.1:c.89832C>T (TTN) | XP_024308864.1:p.Ala29944= | |
| XM_024453097.1:c.87174C>T (TTN) | XP_024308865.1:p.Ala29058= | |
| XM_024453098.1:c.87093C>T (TTN) | XP_024308866.1:p.Ala29031= | |
| XM_024453099.1:c.68856C>T (TTN) | XP_024308867.1:p.Ala22952= | |
| XM_024453100.1:c.58710C>T (TTN) | XP_024308868.1:p.Ala19570= |