Linked Data
ClinVar Variation Id:
202848
dbSNP Id:
rs377334665
ExAC:
2:179437525 G / A
gnomAD v2:
2-179437525-G-A
gnomAD v3:
2-178572798-G-A
gnomAD v4:
2-178572798-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572798G>A , CM000664.2:g.178572798G>A | GRCh38 |
| NC_000002.11:g.179437525G>A , CM000664.1:g.179437525G>A | GRCh37 |
| NC_000002.10:g.179145771G>A | NCBI36 |
| NG_011618.3:g.263005C>T , LRG_391:g.263005C>T | |
| NG_051363.1:g.54972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65630C>T (TTN) | ENSP00000343764.6:p.Thr21877Ile | |
| ENST00000342175.11:c.46715C>T (TTN) | ENSP00000340554.6:p.Thr15572Ile | |
| ENST00000359218.10:c.46514C>T (TTN) | ENSP00000352154.5:p.Thr15505Ile | |
| ENST00000342175.10:c.46715C>T (TTN) | ENSP00000340554.6:p.Thr15572Ile | |
| ENST00000342992.10:c.65630C>T (TTN) | ENSP00000343764.6:p.Thr21877Ile | |
| ENST00000359218.9:c.46514C>T (TTN) | ENSP00000352154.5:p.Thr15505Ile | |
| ENST00000460472.6:c.46139C>T (TTN) | ENSP00000434586.1:p.Thr15380Ile | |
| ENST00000589042.5:c.73334C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr24445Ile | |
| ENST00000591111.5:c.68411C>T (TTN) | ENSP00000465570.1:p.Thr22804Ile | |
| ENST00000615779.4:c.68411C>T (TTN) | ENSP00000483597.1:p.Thr22804Ile | |
| NM_001256850.1:c.68411C>T (TTN) | NP_001243779.1:p.Thr22804Ile | |
| NM_001267550.2:c.73334C>T (TTN) MANE Select | NP_001254479.2:p.Thr24445Ile | |
| NM_003319.4:c.46139C>T (TTN) | NP_003310.4:p.Thr15380Ile | |
| NM_133378.4:c.65630C>T (TTN) | NP_596869.4:p.Thr21877Ile | |
| NM_133432.3:c.46514C>T (TTN) | NP_597676.3:p.Thr15505Ile | |
| NM_133437.4:c.46715C>T (TTN) | NP_597681.4:p.Thr15572Ile | |
| NR_038271.1:n.596+1349G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-9774G>A (TTN-AS1) | ||
| XM_011511729.1:c.72431C>T (TTN) | XP_011510031.1:p.Thr24144Ile | |
| XM_011511730.1:c.46325C>T (TTN) | XP_011510032.1:p.Thr15442Ile | |
| XM_011511731.1:c.46184C>T (TTN) | XP_011510033.1:p.Thr15395Ile | |
| XM_017004819.1:c.72227C>T (TTN) | XP_016860308.1:p.Thr24076Ile | |
| XM_017004820.1:c.67625C>T (TTN) | XP_016860309.1:p.Thr22542Ile | |
| XM_017004821.1:c.67622C>T (TTN) | XP_016860310.1:p.Thr22541Ile | |
| XM_017004822.1:c.64664C>T (TTN) | XP_016860311.1:p.Thr21555Ile | |
| XM_017004823.1:c.46280C>T (TTN) | XP_016860312.1:p.Thr15427Ile | |
| XM_024453094.1:c.67775C>T (TTN) | XP_024308862.1:p.Thr22592Ile | |
| XM_024453095.1:c.67772C>T (TTN) | XP_024308863.1:p.Thr22591Ile | |
| XM_024453096.1:c.67205C>T (TTN) | XP_024308864.1:p.Thr22402Ile | |
| XM_024453097.1:c.64547C>T (TTN) | XP_024308865.1:p.Thr21516Ile | |
| XM_024453098.1:c.64466C>T (TTN) | XP_024308866.1:p.Thr21489Ile | |
| XM_024453099.1:c.46229C>T (TTN) | XP_024308867.1:p.Thr15410Ile | |
| XM_024453100.1:c.36083C>T (TTN) | XP_024308868.1:p.Thr12028Ile |