Linked Data
ClinVar Variation Id:
467311
ClinVar RCV Id:
RCV000547341
RCV001129849
RCV001134841
RCV001134842
RCV001134843
RCV001129850
RCV002491045
dbSNP Id:
rs920055688
gnomAD v3:
2-178593994-A-T
gnomAD v4:
2-178593994-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593994A>T , CM000664.2:g.178593994A>T | GRCh38 |
| NC_000002.11:g.179458721A>T , CM000664.1:g.179458721A>T | GRCh37 |
| NC_000002.10:g.179166967A>T | NCBI36 |
| NG_011618.3:g.241809T>A , LRG_391:g.241809T>A | |
| NG_051363.1:g.76168A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50695T>A (TTN) | ENSP00000343764.6:p.Ser16899Thr | |
| ENST00000342175.11:c.31780T>A (TTN) | ENSP00000340554.6:p.Ser10594Thr | |
| ENST00000359218.10:c.31579T>A (TTN) | ENSP00000352154.5:p.Ser10527Thr | |
| ENST00000342175.10:c.31780T>A (TTN) | ENSP00000340554.6:p.Ser10594Thr | |
| ENST00000342992.10:c.50695T>A (TTN) | ENSP00000343764.6:p.Ser16899Thr | |
| ENST00000359218.9:c.31579T>A (TTN) | ENSP00000352154.5:p.Ser10527Thr | |
| ENST00000460472.6:c.31204T>A (TTN) | ENSP00000434586.1:p.Ser10402Thr | |
| ENST00000589042.5:c.58399T>A (TTN) MANE Select | ENSP00000467141.1:p.Ser19467Thr | |
| ENST00000591111.5:c.53476T>A (TTN) | ENSP00000465570.1:p.Ser17826Thr | |
| ENST00000615779.4:c.53476T>A (TTN) | ENSP00000483597.1:p.Ser17826Thr | |
| NM_001256850.1:c.53476T>A (TTN) | NP_001243779.1:p.Ser17826Thr | |
| NM_001267550.2:c.58399T>A (TTN) MANE Select | NP_001254479.2:p.Ser19467Thr | |
| NM_003319.4:c.31204T>A (TTN) | NP_003310.4:p.Ser10402Thr | |
| NM_133378.4:c.50695T>A (TTN) | NP_596869.4:p.Ser16899Thr | |
| NM_133432.3:c.31579T>A (TTN) | NP_597676.3:p.Ser10527Thr | |
| NM_133437.4:c.31780T>A (TTN) | NP_597681.4:p.Ser10594Thr | |
| NR_038271.1:n.597-3602A>T (TTN-AS1) | ||
| NR_038272.1:n.3364+2680A>T (TTN-AS1) | ||
| XM_011511729.1:c.57496T>A (TTN) | XP_011510031.1:p.Ser19166Thr | |
| XM_011511730.1:c.31390T>A (TTN) | XP_011510032.1:p.Ser10464Thr | |
| XM_011511731.1:c.31249T>A (TTN) | XP_011510033.1:p.Ser10417Thr | |
| XM_017004819.1:c.57292T>A (TTN) | XP_016860308.1:p.Ser19098Thr | |
| XM_017004820.1:c.52690T>A (TTN) | XP_016860309.1:p.Ser17564Thr | |
| XM_017004821.1:c.52687T>A (TTN) | XP_016860310.1:p.Ser17563Thr | |
| XM_017004822.1:c.49729T>A (TTN) | XP_016860311.1:p.Ser16577Thr | |
| XM_017004823.1:c.31345T>A (TTN) | XP_016860312.1:p.Ser10449Thr | |
| XM_024453094.1:c.52840T>A (TTN) | XP_024308862.1:p.Ser17614Thr | |
| XM_024453095.1:c.52837T>A (TTN) | XP_024308863.1:p.Ser17613Thr | |
| XM_024453096.1:c.52270T>A (TTN) | XP_024308864.1:p.Ser17424Thr | |
| XM_024453097.1:c.49612T>A (TTN) | XP_024308865.1:p.Ser16538Thr | |
| XM_024453098.1:c.49531T>A (TTN) | XP_024308866.1:p.Ser16511Thr | |
| XM_024453099.1:c.31294T>A (TTN) | XP_024308867.1:p.Ser10432Thr | |
| XM_024453100.1:c.21148T>A (TTN) | XP_024308868.1:p.Ser7050Thr |