Linked Data
ClinVar Variation Id:
178157
ClinVar RCV Id:
RCV000119019
RCV000154875
RCV000713953
RCV000509179
RCV000852776
RCV000621822
RCV001134221
RCV001086721
RCV001134222
RCV001134223
RCV001798505
RCV004544417
dbSNP Id:
rs140319117
ExAC:
2:179399071 G / A
gnomAD v2:
2-179399071-G-A
gnomAD v3:
2-178534344-G-A
gnomAD v4:
2-178534344-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534344G>A , CM000664.2:g.178534344G>A | GRCh38 |
| NC_000002.11:g.179399071G>A , CM000664.1:g.179399071G>A | GRCh37 |
| NC_000002.10:g.179107317G>A | NCBI36 |
| NG_011618.3:g.301459C>T , LRG_391:g.301459C>T | |
| NG_051363.1:g.16518G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94567C>T (TTN) | ENSP00000343764.6:p.Arg31523Trp | |
| ENST00000342175.11:c.75652C>T (TTN) | ENSP00000340554.6:p.Arg25218Trp | |
| ENST00000359218.10:c.75451C>T (TTN) | ENSP00000352154.5:p.Arg25151Trp | |
| ENST00000342175.10:c.75652C>T (TTN) | ENSP00000340554.6:p.Arg25218Trp | |
| ENST00000342992.10:c.94567C>T (TTN) | ENSP00000343764.6:p.Arg31523Trp | |
| ENST00000359218.9:c.75451C>T (TTN) | ENSP00000352154.5:p.Arg25151Trp | |
| ENST00000460472.6:c.75076C>T (TTN) | ENSP00000434586.1:p.Arg25026Trp | |
| ENST00000589042.5:c.102271C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34091Trp | |
| ENST00000591111.5:c.97348C>T (TTN) | ENSP00000465570.1:p.Arg32450Trp | |
| ENST00000615779.4:c.97348C>T (TTN) | ENSP00000483597.1:p.Arg32450Trp | |
| NM_001256850.1:c.97348C>T (TTN) | NP_001243779.1:p.Arg32450Trp | |
| NM_001267550.2:c.102271C>T (TTN) MANE Select | NP_001254479.2:p.Arg34091Trp | |
| NM_003319.4:c.75076C>T (TTN) | NP_003310.4:p.Arg25026Trp | |
| NM_133378.4:c.94567C>T (TTN) | NP_596869.4:p.Arg31523Trp | |
| NM_133432.3:c.75451C>T (TTN) | NP_597676.3:p.Arg25151Trp | |
| NM_133437.4:c.75652C>T (TTN) | NP_597681.4:p.Arg25218Trp | |
| NR_038271.1:n.446+10708G>A (TTN-AS1) | ||
| NR_038272.1:n.220-1388G>A (TTN-AS1) | ||
| XM_011511729.1:c.101368C>T (TTN) | XP_011510031.1:p.Arg33790Trp | |
| XM_011511730.1:c.75262C>T (TTN) | XP_011510032.1:p.Arg25088Trp | |
| XM_011511731.1:c.75121C>T (TTN) | XP_011510033.1:p.Arg25041Trp | |
| XM_017004819.1:c.101164C>T (TTN) | XP_016860308.1:p.Arg33722Trp | |
| XM_017004820.1:c.96562C>T (TTN) | XP_016860309.1:p.Arg32188Trp | |
| XM_017004821.1:c.96559C>T (TTN) | XP_016860310.1:p.Arg32187Trp | |
| XM_017004822.1:c.93601C>T (TTN) | XP_016860311.1:p.Arg31201Trp | |
| XM_017004823.1:c.75217C>T (TTN) | XP_016860312.1:p.Arg25073Trp | |
| XM_024453094.1:c.96712C>T (TTN) | XP_024308862.1:p.Arg32238Trp | |
| XM_024453095.1:c.96709C>T (TTN) | XP_024308863.1:p.Arg32237Trp | |
| XM_024453096.1:c.96142C>T (TTN) | XP_024308864.1:p.Arg32048Trp | |
| XM_024453097.1:c.93484C>T (TTN) | XP_024308865.1:p.Arg31162Trp | |
| XM_024453098.1:c.93403C>T (TTN) | XP_024308866.1:p.Arg31135Trp | |
| XM_024453099.1:c.75166C>T (TTN) | XP_024308867.1:p.Arg25056Trp | |
| XM_024453100.1:c.65020C>T (TTN) | XP_024308868.1:p.Arg21674Trp |