Linked Data
ClinVar Variation Id:
332686
ClinVar RCV Id:
RCV000273903
RCV000298551
RCV000313614
RCV000355738
RCV000396822
RCV000607925
RCV003137936
dbSNP Id:
rs372875128
ExAC:
2:179395936 G / A
gnomAD v2:
2-179395936-G-A
gnomAD v3:
2-178531209-G-A
gnomAD v4:
2-178531209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531209G>A , CM000664.2:g.178531209G>A | GRCh38 |
| NC_000002.11:g.179395936G>A , CM000664.1:g.179395936G>A | GRCh37 |
| NC_000002.10:g.179104182G>A | NCBI36 |
| NG_011618.3:g.304594C>T , LRG_391:g.304594C>T | |
| NG_051363.1:g.13383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97702C>T (TTN) | ENSP00000343764.6:p.Arg32568Trp | |
| ENST00000342175.11:c.78787C>T (TTN) | ENSP00000340554.6:p.Arg26263Trp | |
| ENST00000359218.10:c.78586C>T (TTN) | ENSP00000352154.5:p.Arg26196Trp | |
| ENST00000342175.10:c.78787C>T (TTN) | ENSP00000340554.6:p.Arg26263Trp | |
| ENST00000342992.10:c.97702C>T (TTN) | ENSP00000343764.6:p.Arg32568Trp | |
| ENST00000359218.9:c.78586C>T (TTN) | ENSP00000352154.5:p.Arg26196Trp | |
| ENST00000460472.6:c.78211C>T (TTN) | ENSP00000434586.1:p.Arg26071Trp | |
| ENST00000589042.5:c.105406C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg35136Trp | |
| ENST00000591111.5:c.100483C>T (TTN) | ENSP00000465570.1:p.Arg33495Trp | |
| ENST00000615779.4:c.100483C>T (TTN) | ENSP00000483597.1:p.Arg33495Trp | |
| NM_001256850.1:c.100483C>T (TTN) | NP_001243779.1:p.Arg33495Trp | |
| NM_001267550.2:c.105406C>T (TTN) MANE Select | NP_001254479.2:p.Arg35136Trp | |
| NM_003319.4:c.78211C>T (TTN) | NP_003310.4:p.Arg26071Trp | |
| NM_133378.4:c.97702C>T (TTN) | NP_596869.4:p.Arg32568Trp | |
| NM_133432.3:c.78586C>T (TTN) | NP_597676.3:p.Arg26196Trp | |
| NM_133437.4:c.78787C>T (TTN) | NP_597681.4:p.Arg26263Trp | |
| NR_038271.1:n.446+7573G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4523G>A (TTN-AS1) | ||
| XM_011511729.1:c.104503C>T (TTN) | XP_011510031.1:p.Arg34835Trp | |
| XM_011511730.1:c.78397C>T (TTN) | XP_011510032.1:p.Arg26133Trp | |
| XM_011511731.1:c.78256C>T (TTN) | XP_011510033.1:p.Arg26086Trp | |
| XM_017004819.1:c.104299C>T (TTN) | XP_016860308.1:p.Arg34767Trp | |
| XM_017004820.1:c.99697C>T (TTN) | XP_016860309.1:p.Arg33233Trp | |
| XM_017004821.1:c.99694C>T (TTN) | XP_016860310.1:p.Arg33232Trp | |
| XM_017004822.1:c.96736C>T (TTN) | XP_016860311.1:p.Arg32246Trp | |
| XM_017004823.1:c.78352C>T (TTN) | XP_016860312.1:p.Arg26118Trp | |
| XM_024453094.1:c.99847C>T (TTN) | XP_024308862.1:p.Arg33283Trp | |
| XM_024453095.1:c.99844C>T (TTN) | XP_024308863.1:p.Arg33282Trp | |
| XM_024453096.1:c.99277C>T (TTN) | XP_024308864.1:p.Arg33093Trp | |
| XM_024453097.1:c.96619C>T (TTN) | XP_024308865.1:p.Arg32207Trp | |
| XM_024453098.1:c.96538C>T (TTN) | XP_024308866.1:p.Arg32180Trp | |
| XM_024453099.1:c.78301C>T (TTN) | XP_024308867.1:p.Arg26101Trp | |
| XM_024453100.1:c.68155C>T (TTN) | XP_024308868.1:p.Arg22719Trp |