Linked Data
ClinVar Variation Id:
466641
dbSNP Id:
rs764985774
ExAC:
2:179465659 G / A
gnomAD v2:
2-179465659-G-A
gnomAD v4:
2-178600932-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178600932G>A , CM000664.2:g.178600932G>A | GRCh38 |
| NC_000002.11:g.179465659G>A , CM000664.1:g.179465659G>A | GRCh37 |
| NC_000002.10:g.179173904G>A | NCBI36 |
| NG_011618.3:g.234871C>T , LRG_391:g.234871C>T | |
| NG_051363.1:g.83106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48268C>T (TTN) | ENSP00000343764.6:p.Arg16090Ter | |
| ENST00000342175.11:c.29353C>T (TTN) | ENSP00000340554.6:p.Arg9785Ter | |
| ENST00000359218.10:c.29152C>T (TTN) | ENSP00000352154.5:p.Arg9718Ter | |
| ENST00000342175.10:c.29353C>T (TTN) | ENSP00000340554.6:p.Arg9785Ter | |
| ENST00000342992.10:c.48268C>T (TTN) | ENSP00000343764.6:p.Arg16090Ter | |
| ENST00000359218.9:c.29152C>T (TTN) | ENSP00000352154.5:p.Arg9718Ter | |
| ENST00000460472.6:c.28777C>T (TTN) | ENSP00000434586.1:p.Arg9593Ter | |
| ENST00000589042.5:c.55972C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg18658Ter | |
| ENST00000591111.5:c.51049C>T (TTN) | ENSP00000465570.1:p.Arg17017Ter | |
| ENST00000615779.4:c.51049C>T (TTN) | ENSP00000483597.1:p.Arg17017Ter | |
| NM_001256850.1:c.51049C>T (TTN) | NP_001243779.1:p.Arg17017Ter | |
| NM_001267550.2:c.55972C>T (TTN) MANE Select | NP_001254479.2:p.Arg18658Ter | |
| NM_003319.4:c.28777C>T (TTN) | NP_003310.4:p.Arg9593Ter | |
| NM_133378.4:c.48268C>T (TTN) | NP_596869.4:p.Arg16090Ter | |
| NM_133432.3:c.29152C>T (TTN) | NP_597676.3:p.Arg9718Ter | |
| NM_133437.4:c.29353C>T (TTN) | NP_597681.4:p.Arg9785Ter | |
| NR_038271.1:n.682+3251G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+265G>A (TTN-AS1) | ||
| XM_011511729.1:c.55069C>T (TTN) | XP_011510031.1:p.Arg18357Ter | |
| XM_011511730.1:c.28963C>T (TTN) | XP_011510032.1:p.Arg9655Ter | |
| XM_011511731.1:c.28822C>T (TTN) | XP_011510033.1:p.Arg9608Ter | |
| XM_017004819.1:c.54865C>T (TTN) | XP_016860308.1:p.Arg18289Ter | |
| XM_017004820.1:c.50263C>T (TTN) | XP_016860309.1:p.Arg16755Ter | |
| XM_017004821.1:c.50260C>T (TTN) | XP_016860310.1:p.Arg16754Ter | |
| XM_017004822.1:c.47302C>T (TTN) | XP_016860311.1:p.Arg15768Ter | |
| XM_017004823.1:c.28918C>T (TTN) | XP_016860312.1:p.Arg9640Ter | |
| XM_024453094.1:c.50413C>T (TTN) | XP_024308862.1:p.Arg16805Ter | |
| XM_024453095.1:c.50410C>T (TTN) | XP_024308863.1:p.Arg16804Ter | |
| XM_024453096.1:c.49843C>T (TTN) | XP_024308864.1:p.Arg16615Ter | |
| XM_024453097.1:c.47185C>T (TTN) | XP_024308865.1:p.Arg15729Ter | |
| XM_024453098.1:c.47104C>T (TTN) | XP_024308866.1:p.Arg15702Ter | |
| XM_024453099.1:c.28867C>T (TTN) | XP_024308867.1:p.Arg9623Ter | |
| XM_024453100.1:c.18721C>T (TTN) | XP_024308868.1:p.Arg6241Ter |