Linked Data
ClinVar Variation Id:
229548
ClinVar RCV Id:
RCV000217379
dbSNP Id:
rs757718784
ExAC:
2:179409033 G / A
gnomAD v2:
2-179409033-G-A
gnomAD v4:
2-178544306-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544306G>A , CM000664.2:g.178544306G>A | GRCh38 |
| NC_000002.11:g.179409033G>A , CM000664.1:g.179409033G>A | GRCh37 |
| NC_000002.10:g.179117279G>A | NCBI36 |
| NG_011618.3:g.291497C>T , LRG_391:g.291497C>T | |
| NG_051363.1:g.26480G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88219C>T (TTN) | ENSP00000343764.6:p.Leu29407Phe | |
| ENST00000342175.11:c.69304C>T (TTN) | ENSP00000340554.6:p.Leu23102Phe | |
| ENST00000359218.10:c.69103C>T (TTN) | ENSP00000352154.5:p.Leu23035Phe | |
| ENST00000342175.10:c.69304C>T (TTN) | ENSP00000340554.6:p.Leu23102Phe | |
| ENST00000342992.10:c.88219C>T (TTN) | ENSP00000343764.6:p.Leu29407Phe | |
| ENST00000359218.9:c.69103C>T (TTN) | ENSP00000352154.5:p.Leu23035Phe | |
| ENST00000460472.6:c.68728C>T (TTN) | ENSP00000434586.1:p.Leu22910Phe | |
| ENST00000589042.5:c.95923C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu31975Phe | |
| ENST00000591111.5:c.91000C>T (TTN) | ENSP00000465570.1:p.Leu30334Phe | |
| ENST00000615779.4:c.91000C>T (TTN) | ENSP00000483597.1:p.Leu30334Phe | |
| NM_001256850.1:c.91000C>T (TTN) | NP_001243779.1:p.Leu30334Phe | |
| NM_001267550.2:c.95923C>T (TTN) MANE Select | NP_001254479.2:p.Leu31975Phe | |
| NM_003319.4:c.68728C>T (TTN) | NP_003310.4:p.Leu22910Phe | |
| NM_133378.4:c.88219C>T (TTN) | NP_596869.4:p.Leu29407Phe | |
| NM_133432.3:c.69103C>T (TTN) | NP_597676.3:p.Leu23035Phe | |
| NM_133437.4:c.69304C>T (TTN) | NP_597681.4:p.Leu23102Phe | |
| NR_038271.1:n.446+20670G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1945G>A (TTN-AS1) | ||
| XM_011511729.1:c.95020C>T (TTN) | XP_011510031.1:p.Leu31674Phe | |
| XM_011511730.1:c.68914C>T (TTN) | XP_011510032.1:p.Leu22972Phe | |
| XM_011511731.1:c.68773C>T (TTN) | XP_011510033.1:p.Leu22925Phe | |
| XM_017004819.1:c.94816C>T (TTN) | XP_016860308.1:p.Leu31606Phe | |
| XM_017004820.1:c.90214C>T (TTN) | XP_016860309.1:p.Leu30072Phe | |
| XM_017004821.1:c.90211C>T (TTN) | XP_016860310.1:p.Leu30071Phe | |
| XM_017004822.1:c.87253C>T (TTN) | XP_016860311.1:p.Leu29085Phe | |
| XM_017004823.1:c.68869C>T (TTN) | XP_016860312.1:p.Leu22957Phe | |
| XM_024453094.1:c.90364C>T (TTN) | XP_024308862.1:p.Leu30122Phe | |
| XM_024453095.1:c.90361C>T (TTN) | XP_024308863.1:p.Leu30121Phe | |
| XM_024453096.1:c.89794C>T (TTN) | XP_024308864.1:p.Leu29932Phe | |
| XM_024453097.1:c.87136C>T (TTN) | XP_024308865.1:p.Leu29046Phe | |
| XM_024453098.1:c.87055C>T (TTN) | XP_024308866.1:p.Leu29019Phe | |
| XM_024453099.1:c.68818C>T (TTN) | XP_024308867.1:p.Leu22940Phe | |
| XM_024453100.1:c.58672C>T (TTN) | XP_024308868.1:p.Leu19558Phe |