Linked Data
ClinVar Variation Id:
178164
ClinVar RCV Id:
RCV000154883
RCV000172609
RCV000269738
RCV000296814
RCV000349128
RCV000242078
RCV000388775
RCV000327104
RCV001080422
RCV004544419
dbSNP Id:
rs199805060
ExAC:
2:179404525 G / A
gnomAD v2:
2-179404525-G-A
gnomAD v3:
2-178539798-G-A
gnomAD v4:
2-178539798-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539798G>A , CM000664.2:g.178539798G>A | GRCh38 |
| NC_000002.11:g.179404525G>A , CM000664.1:g.179404525G>A | GRCh37 |
| NC_000002.10:g.179112771G>A | NCBI36 |
| NG_011618.3:g.296005C>T , LRG_391:g.296005C>T | |
| NG_051363.1:g.21972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90563C>T (TTN) | ENSP00000343764.6:p.Thr30188Ile | |
| ENST00000342175.11:c.71648C>T (TTN) | ENSP00000340554.6:p.Thr23883Ile | |
| ENST00000359218.10:c.71447C>T (TTN) | ENSP00000352154.5:p.Thr23816Ile | |
| ENST00000342175.10:c.71648C>T (TTN) | ENSP00000340554.6:p.Thr23883Ile | |
| ENST00000342992.10:c.90563C>T (TTN) | ENSP00000343764.6:p.Thr30188Ile | |
| ENST00000359218.9:c.71447C>T (TTN) | ENSP00000352154.5:p.Thr23816Ile | |
| ENST00000460472.6:c.71072C>T (TTN) | ENSP00000434586.1:p.Thr23691Ile | |
| ENST00000589042.5:c.98267C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr32756Ile | |
| ENST00000591111.5:c.93344C>T (TTN) | ENSP00000465570.1:p.Thr31115Ile | |
| ENST00000615779.4:c.93344C>T (TTN) | ENSP00000483597.1:p.Thr31115Ile | |
| NM_001256850.1:c.93344C>T (TTN) | NP_001243779.1:p.Thr31115Ile | |
| NM_001267550.2:c.98267C>T (TTN) MANE Select | NP_001254479.2:p.Thr32756Ile | |
| NM_003319.4:c.71072C>T (TTN) | NP_003310.4:p.Thr23691Ile | |
| NM_133378.4:c.90563C>T (TTN) | NP_596869.4:p.Thr30188Ile | |
| NM_133432.3:c.71447C>T (TTN) | NP_597676.3:p.Thr23816Ile | |
| NM_133437.4:c.71648C>T (TTN) | NP_597681.4:p.Thr23883Ile | |
| NR_038271.1:n.446+16162G>A (TTN-AS1) | ||
| NR_038272.1:n.1748G>A (TTN-AS1) | ||
| XM_011511729.1:c.97364C>T (TTN) | XP_011510031.1:p.Thr32455Ile | |
| XM_011511730.1:c.71258C>T (TTN) | XP_011510032.1:p.Thr23753Ile | |
| XM_011511731.1:c.71117C>T (TTN) | XP_011510033.1:p.Thr23706Ile | |
| XM_017004819.1:c.97160C>T (TTN) | XP_016860308.1:p.Thr32387Ile | |
| XM_017004820.1:c.92558C>T (TTN) | XP_016860309.1:p.Thr30853Ile | |
| XM_017004821.1:c.92555C>T (TTN) | XP_016860310.1:p.Thr30852Ile | |
| XM_017004822.1:c.89597C>T (TTN) | XP_016860311.1:p.Thr29866Ile | |
| XM_017004823.1:c.71213C>T (TTN) | XP_016860312.1:p.Thr23738Ile | |
| XM_024453094.1:c.92708C>T (TTN) | XP_024308862.1:p.Thr30903Ile | |
| XM_024453095.1:c.92705C>T (TTN) | XP_024308863.1:p.Thr30902Ile | |
| XM_024453096.1:c.92138C>T (TTN) | XP_024308864.1:p.Thr30713Ile | |
| XM_024453097.1:c.89480C>T (TTN) | XP_024308865.1:p.Thr29827Ile | |
| XM_024453098.1:c.89399C>T (TTN) | XP_024308866.1:p.Thr29800Ile | |
| XM_024453099.1:c.71162C>T (TTN) | XP_024308867.1:p.Thr23721Ile | |
| XM_024453100.1:c.61016C>T (TTN) | XP_024308868.1:p.Thr20339Ile |