Linked Data
ClinVar Variation Id:
202856
ClinVar RCV Id:
RCV000184814
RCV001136046
RCV001136047
RCV001129081
RCV002336487
RCV001129080
RCV001136048
RCV003137736
dbSNP Id:
rs759432194
ExAC:
2:179436295 G / A
gnomAD v2:
2-179436295-G-A
gnomAD v3:
2-178571568-G-A
gnomAD v4:
2-178571568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571568G>A , CM000664.2:g.178571568G>A | GRCh38 |
| NC_000002.11:g.179436295G>A , CM000664.1:g.179436295G>A | GRCh37 |
| NC_000002.10:g.179144541G>A | NCBI36 |
| NG_011618.3:g.264235C>T , LRG_391:g.264235C>T | |
| NG_051363.1:g.53742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66860C>T (TTN) | ENSP00000343764.6:p.Thr22287Ile | |
| ENST00000342175.11:c.47945C>T (TTN) | ENSP00000340554.6:p.Thr15982Ile | |
| ENST00000359218.10:c.47744C>T (TTN) | ENSP00000352154.5:p.Thr15915Ile | |
| ENST00000342175.10:c.47945C>T (TTN) | ENSP00000340554.6:p.Thr15982Ile | |
| ENST00000342992.10:c.66860C>T (TTN) | ENSP00000343764.6:p.Thr22287Ile | |
| ENST00000359218.9:c.47744C>T (TTN) | ENSP00000352154.5:p.Thr15915Ile | |
| ENST00000460472.6:c.47369C>T (TTN) | ENSP00000434586.1:p.Thr15790Ile | |
| ENST00000589042.5:c.74564C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr24855Ile | |
| ENST00000591111.5:c.69641C>T (TTN) | ENSP00000465570.1:p.Thr23214Ile | |
| ENST00000615779.4:c.69641C>T (TTN) | ENSP00000483597.1:p.Thr23214Ile | |
| NM_001256850.1:c.69641C>T (TTN) | NP_001243779.1:p.Thr23214Ile | |
| NM_001267550.2:c.74564C>T (TTN) MANE Select | NP_001254479.2:p.Thr24855Ile | |
| NM_003319.4:c.47369C>T (TTN) | NP_003310.4:p.Thr15790Ile | |
| NM_133378.4:c.66860C>T (TTN) | NP_596869.4:p.Thr22287Ile | |
| NM_133432.3:c.47744C>T (TTN) | NP_597676.3:p.Thr15915Ile | |
| NM_133437.4:c.47945C>T (TTN) | NP_597681.4:p.Thr15982Ile | |
| NR_038271.1:n.596+119G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11004G>A (TTN-AS1) | ||
| XM_011511729.1:c.73661C>T (TTN) | XP_011510031.1:p.Thr24554Ile | |
| XM_011511730.1:c.47555C>T (TTN) | XP_011510032.1:p.Thr15852Ile | |
| XM_011511731.1:c.47414C>T (TTN) | XP_011510033.1:p.Thr15805Ile | |
| XM_017004819.1:c.73457C>T (TTN) | XP_016860308.1:p.Thr24486Ile | |
| XM_017004820.1:c.68855C>T (TTN) | XP_016860309.1:p.Thr22952Ile | |
| XM_017004821.1:c.68852C>T (TTN) | XP_016860310.1:p.Thr22951Ile | |
| XM_017004822.1:c.65894C>T (TTN) | XP_016860311.1:p.Thr21965Ile | |
| XM_017004823.1:c.47510C>T (TTN) | XP_016860312.1:p.Thr15837Ile | |
| XM_024453094.1:c.69005C>T (TTN) | XP_024308862.1:p.Thr23002Ile | |
| XM_024453095.1:c.69002C>T (TTN) | XP_024308863.1:p.Thr23001Ile | |
| XM_024453096.1:c.68435C>T (TTN) | XP_024308864.1:p.Thr22812Ile | |
| XM_024453097.1:c.65777C>T (TTN) | XP_024308865.1:p.Thr21926Ile | |
| XM_024453098.1:c.65696C>T (TTN) | XP_024308866.1:p.Thr21899Ile | |
| XM_024453099.1:c.47459C>T (TTN) | XP_024308867.1:p.Thr15820Ile | |
| XM_024453100.1:c.37313C>T (TTN) | XP_024308868.1:p.Thr12438Ile |