Linked Data
ClinVar Variation Id:
203113
dbSNP Id:
rs374992991
ExAC:
2:179393278 C / T
gnomAD v2:
2-179393278-C-T
gnomAD v3:
2-178528551-C-T
gnomAD v4:
2-178528551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528551C>T , CM000664.2:g.178528551C>T | GRCh38 |
| NC_000002.11:g.179393278C>T , CM000664.1:g.179393278C>T | GRCh37 |
| NC_000002.10:g.179101524C>T | NCBI36 |
| NG_011618.3:g.307252G>A , LRG_391:g.307252G>A | |
| NG_051363.1:g.10725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99496G>A (TTN) | ENSP00000343764.6:p.Glu33166Lys | |
| ENST00000342175.11:c.80581G>A (TTN) | ENSP00000340554.6:p.Glu26861Lys | |
| ENST00000359218.10:c.80380G>A (TTN) | ENSP00000352154.5:p.Glu26794Lys | |
| ENST00000342175.10:c.80581G>A (TTN) | ENSP00000340554.6:p.Glu26861Lys | |
| ENST00000342992.10:c.99496G>A (TTN) | ENSP00000343764.6:p.Glu33166Lys | |
| ENST00000359218.9:c.80380G>A (TTN) | ENSP00000352154.5:p.Glu26794Lys | |
| ENST00000460472.6:c.80005G>A (TTN) | ENSP00000434586.1:p.Glu26669Lys | |
| ENST00000589042.5:c.107200G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu35734Lys | |
| ENST00000591111.5:c.102277G>A (TTN) | ENSP00000465570.1:p.Glu34093Lys | |
| ENST00000615779.4:c.102277G>A (TTN) | ENSP00000483597.1:p.Glu34093Lys | |
| NM_001256850.1:c.102277G>A (TTN) | NP_001243779.1:p.Glu34093Lys | |
| NM_001267550.2:c.107200G>A (TTN) MANE Select | NP_001254479.2:p.Glu35734Lys | |
| NM_003319.4:c.80005G>A (TTN) | NP_003310.4:p.Glu26669Lys | |
| NM_133378.4:c.99496G>A (TTN) | NP_596869.4:p.Glu33166Lys | |
| NM_133432.3:c.80380G>A (TTN) | NP_597676.3:p.Glu26794Lys | |
| NM_133437.4:c.80581G>A (TTN) | NP_597681.4:p.Glu26861Lys | |
| NR_038271.1:n.446+4915C>T (TTN-AS1) | ||
| NR_038272.1:n.219+4915C>T (TTN-AS1) | ||
| XM_011511729.1:c.106297G>A (TTN) | XP_011510031.1:p.Glu35433Lys | |
| XM_011511730.1:c.80191G>A (TTN) | XP_011510032.1:p.Glu26731Lys | |
| XM_011511731.1:c.80050G>A (TTN) | XP_011510033.1:p.Glu26684Lys | |
| XM_017004819.1:c.106093G>A (TTN) | XP_016860308.1:p.Glu35365Lys | |
| XM_017004820.1:c.101491G>A (TTN) | XP_016860309.1:p.Glu33831Lys | |
| XM_017004821.1:c.101488G>A (TTN) | XP_016860310.1:p.Glu33830Lys | |
| XM_017004822.1:c.98530G>A (TTN) | XP_016860311.1:p.Glu32844Lys | |
| XM_017004823.1:c.80146G>A (TTN) | XP_016860312.1:p.Glu26716Lys | |
| XM_024453094.1:c.101641G>A (TTN) | XP_024308862.1:p.Glu33881Lys | |
| XM_024453095.1:c.101638G>A (TTN) | XP_024308863.1:p.Glu33880Lys | |
| XM_024453096.1:c.101071G>A (TTN) | XP_024308864.1:p.Glu33691Lys | |
| XM_024453097.1:c.98413G>A (TTN) | XP_024308865.1:p.Glu32805Lys | |
| XM_024453098.1:c.98332G>A (TTN) | XP_024308866.1:p.Glu32778Lys | |
| XM_024453099.1:c.80095G>A (TTN) | XP_024308867.1:p.Glu26699Lys | |
| XM_024453100.1:c.69949G>A (TTN) | XP_024308868.1:p.Glu23317Lys |