Linked Data
ClinVar Variation Id:
500307
dbSNP Id:
rs755994820
ExAC:
2:179475757 G / A
gnomAD v2:
2-179475757-G-A
gnomAD v3:
2-178611030-G-A
gnomAD v4:
2-178611030-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611030G>A , CM000664.2:g.178611030G>A | GRCh38 |
| NC_000002.11:g.179475757G>A , CM000664.1:g.179475757G>A | GRCh37 |
| NC_000002.10:g.179184002G>A | NCBI36 |
| NG_011618.3:g.224773C>T , LRG_391:g.224773C>T | |
| NG_051363.1:g.93204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43395C>T (TTN) | ENSP00000343764.6:p.Leu14465= | |
| ENST00000342175.11:c.24480C>T (TTN) | ENSP00000340554.6:p.Leu8160= | |
| ENST00000359218.10:c.24279C>T (TTN) | ENSP00000352154.5:p.Leu8093= | |
| ENST00000342175.10:c.24480C>T (TTN) | ENSP00000340554.6:p.Leu8160= | |
| ENST00000342992.10:c.43395C>T (TTN) | ENSP00000343764.6:p.Leu14465= | |
| ENST00000359218.9:c.24279C>T (TTN) | ENSP00000352154.5:p.Leu8093= | |
| ENST00000460472.6:c.23904C>T (TTN) | ENSP00000434586.1:p.Leu7968= | |
| ENST00000589042.5:c.51099C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu17033= | |
| ENST00000591111.5:c.46176C>T (TTN) | ENSP00000465570.1:p.Leu15392= | |
| ENST00000615779.4:c.46176C>T (TTN) | ENSP00000483597.1:p.Leu15392= | |
| NM_001256850.1:c.46176C>T (TTN) | NP_001243779.1:p.Leu15392= | |
| NM_001267550.2:c.51099C>T (TTN) MANE Select | NP_001254479.2:p.Leu17033= | |
| NM_003319.4:c.23904C>T (TTN) | NP_003310.4:p.Leu7968= | |
| NM_133378.4:c.43395C>T (TTN) | NP_596869.4:p.Leu14465= | |
| NM_133432.3:c.24279C>T (TTN) | NP_597676.3:p.Leu8093= | |
| NM_133437.4:c.24480C>T (TTN) | NP_597681.4:p.Leu8160= | |
| NR_038271.1:n.782+2764G>A (TTN-AS1) | ||
| XM_011511729.1:c.50196C>T (TTN) | XP_011510031.1:p.Leu16732= | |
| XM_011511730.1:c.24090C>T (TTN) | XP_011510032.1:p.Leu8030= | |
| XM_011511731.1:c.23949C>T (TTN) | XP_011510033.1:p.Leu7983= | |
| XM_017004819.1:c.49992C>T (TTN) | XP_016860308.1:p.Leu16664= | |
| XM_017004820.1:c.45390C>T (TTN) | XP_016860309.1:p.Leu15130= | |
| XM_017004821.1:c.45387C>T (TTN) | XP_016860310.1:p.Leu15129= | |
| XM_017004822.1:c.42429C>T (TTN) | XP_016860311.1:p.Leu14143= | |
| XM_017004823.1:c.24045C>T (TTN) | XP_016860312.1:p.Leu8015= | |
| XM_024453094.1:c.45540C>T (TTN) | XP_024308862.1:p.Leu15180= | |
| XM_024453095.1:c.45537C>T (TTN) | XP_024308863.1:p.Leu15179= | |
| XM_024453096.1:c.44970C>T (TTN) | XP_024308864.1:p.Leu14990= | |
| XM_024453097.1:c.42312C>T (TTN) | XP_024308865.1:p.Leu14104= | |
| XM_024453098.1:c.42231C>T (TTN) | XP_024308866.1:p.Leu14077= | |
| XM_024453099.1:c.23994C>T (TTN) | XP_024308867.1:p.Leu7998= | |
| XM_024453100.1:c.13848C>T (TTN) | XP_024308868.1:p.Leu4616= |