Linked Data
ClinVar Variation Id:
405082
dbSNP Id:
rs926741242
gnomAD v2:
2-179474016-G-A
gnomAD v3:
2-178609289-G-A
gnomAD v4:
2-178609289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609289G>A , CM000664.2:g.178609289G>A | GRCh38 |
| NC_000002.11:g.179474016G>A , CM000664.1:g.179474016G>A | GRCh37 |
| NC_000002.10:g.179182261G>A | NCBI36 |
| NG_011618.3:g.226514C>T , LRG_391:g.226514C>T | |
| NG_051363.1:g.91463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44317C>T (TTN) | ENSP00000343764.6:p.Arg14773Ter | |
| ENST00000342175.11:c.25402C>T (TTN) | ENSP00000340554.6:p.Arg8468Ter | |
| ENST00000359218.10:c.25201C>T (TTN) | ENSP00000352154.5:p.Arg8401Ter | |
| ENST00000342175.10:c.25402C>T (TTN) | ENSP00000340554.6:p.Arg8468Ter | |
| ENST00000342992.10:c.44317C>T (TTN) | ENSP00000343764.6:p.Arg14773Ter | |
| ENST00000359218.9:c.25201C>T (TTN) | ENSP00000352154.5:p.Arg8401Ter | |
| ENST00000460472.6:c.24826C>T (TTN) | ENSP00000434586.1:p.Arg8276Ter | |
| ENST00000589042.5:c.52021C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg17341Ter | |
| ENST00000591111.5:c.47098C>T (TTN) | ENSP00000465570.1:p.Arg15700Ter | |
| ENST00000615779.4:c.47098C>T (TTN) | ENSP00000483597.1:p.Arg15700Ter | |
| NM_001256850.1:c.47098C>T (TTN) | NP_001243779.1:p.Arg15700Ter | |
| NM_001267550.2:c.52021C>T (TTN) MANE Select | NP_001254479.2:p.Arg17341Ter | |
| NM_003319.4:c.24826C>T (TTN) | NP_003310.4:p.Arg8276Ter | |
| NM_133378.4:c.44317C>T (TTN) | NP_596869.4:p.Arg14773Ter | |
| NM_133432.3:c.25201C>T (TTN) | NP_597676.3:p.Arg8401Ter | |
| NM_133437.4:c.25402C>T (TTN) | NP_597681.4:p.Arg8468Ter | |
| NR_038271.1:n.782+1023G>A (TTN-AS1) | ||
| XM_011511729.1:c.51118C>T (TTN) | XP_011510031.1:p.Arg17040Ter | |
| XM_011511730.1:c.25012C>T (TTN) | XP_011510032.1:p.Arg8338Ter | |
| XM_011511731.1:c.24871C>T (TTN) | XP_011510033.1:p.Arg8291Ter | |
| XM_017004819.1:c.50914C>T (TTN) | XP_016860308.1:p.Arg16972Ter | |
| XM_017004820.1:c.46312C>T (TTN) | XP_016860309.1:p.Arg15438Ter | |
| XM_017004821.1:c.46309C>T (TTN) | XP_016860310.1:p.Arg15437Ter | |
| XM_017004822.1:c.43351C>T (TTN) | XP_016860311.1:p.Arg14451Ter | |
| XM_017004823.1:c.24967C>T (TTN) | XP_016860312.1:p.Arg8323Ter | |
| XM_024453094.1:c.46462C>T (TTN) | XP_024308862.1:p.Arg15488Ter | |
| XM_024453095.1:c.46459C>T (TTN) | XP_024308863.1:p.Arg15487Ter | |
| XM_024453096.1:c.45892C>T (TTN) | XP_024308864.1:p.Arg15298Ter | |
| XM_024453097.1:c.43234C>T (TTN) | XP_024308865.1:p.Arg14412Ter | |
| XM_024453098.1:c.43153C>T (TTN) | XP_024308866.1:p.Arg14385Ter | |
| XM_024453099.1:c.24916C>T (TTN) | XP_024308867.1:p.Arg8306Ter | |
| XM_024453100.1:c.14770C>T (TTN) | XP_024308868.1:p.Arg4924Ter |