Linked Data
ClinVar Variation Id:
202529
ClinVar RCV Id:
RCV000414825
RCV000414850
RCV000415078
RCV000735131
RCV000714746
RCV001383196
RCV001808462
RCV003228796
RCV004528965
RCV002516949
RCV004017470
dbSNP Id:
rs757082154
ExAC:
2:179392218 G / A
gnomAD v2:
2-179392218-G-A
gnomAD v4:
2-178527491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527491G>A , CM000664.2:g.178527491G>A | GRCh38 |
| NC_000002.11:g.179392218G>A , CM000664.1:g.179392218G>A | GRCh37 |
| NC_000002.10:g.179100464G>A | NCBI36 |
| NG_011618.3:g.308312C>T , LRG_391:g.308312C>T | |
| NG_051363.1:g.9665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99931C>T (TTN) | ENSP00000343764.6:p.Gln33311Ter | |
| ENST00000342175.11:c.81016C>T (TTN) | ENSP00000340554.6:p.Gln27006Ter | |
| ENST00000359218.10:c.80815C>T (TTN) | ENSP00000352154.5:p.Gln26939Ter | |
| ENST00000342175.10:c.81016C>T (TTN) | ENSP00000340554.6:p.Gln27006Ter | |
| ENST00000342992.10:c.99931C>T (TTN) | ENSP00000343764.6:p.Gln33311Ter | |
| ENST00000359218.9:c.80815C>T (TTN) | ENSP00000352154.5:p.Gln26939Ter | |
| ENST00000460472.6:c.80440C>T (TTN) | ENSP00000434586.1:p.Gln26814Ter | |
| ENST00000589042.5:c.107635C>T (TTN) MANE Select | ENSP00000467141.1:p.Gln35879Ter | |
| ENST00000591111.5:c.102712C>T (TTN) | ENSP00000465570.1:p.Gln34238Ter | |
| ENST00000615779.4:c.102712C>T (TTN) | ENSP00000483597.1:p.Gln34238Ter | |
| NM_001256850.1:c.102712C>T (TTN) | NP_001243779.1:p.Gln34238Ter | |
| NM_001267550.2:c.107635C>T (TTN) MANE Select | NP_001254479.2:p.Gln35879Ter | |
| NM_003319.4:c.80440C>T (TTN) | NP_003310.4:p.Gln26814Ter | |
| NM_133378.4:c.99931C>T (TTN) | NP_596869.4:p.Gln33311Ter | |
| NM_133432.3:c.80815C>T (TTN) | NP_597676.3:p.Gln26939Ter | |
| NM_133437.4:c.81016C>T (TTN) | NP_597681.4:p.Gln27006Ter | |
| NR_038271.1:n.446+3855G>A (TTN-AS1) | ||
| NR_038272.1:n.219+3855G>A (TTN-AS1) | ||
| XM_011511729.1:c.106732C>T (TTN) | XP_011510031.1:p.Gln35578Ter | |
| XM_011511730.1:c.80626C>T (TTN) | XP_011510032.1:p.Gln26876Ter | |
| XM_011511731.1:c.80485C>T (TTN) | XP_011510033.1:p.Gln26829Ter | |
| XM_017004819.1:c.106528C>T (TTN) | XP_016860308.1:p.Gln35510Ter | |
| XM_017004820.1:c.101926C>T (TTN) | XP_016860309.1:p.Gln33976Ter | |
| XM_017004821.1:c.101923C>T (TTN) | XP_016860310.1:p.Gln33975Ter | |
| XM_017004822.1:c.98965C>T (TTN) | XP_016860311.1:p.Gln32989Ter | |
| XM_017004823.1:c.80581C>T (TTN) | XP_016860312.1:p.Gln26861Ter | |
| XM_024453094.1:c.102076C>T (TTN) | XP_024308862.1:p.Gln34026Ter | |
| XM_024453095.1:c.102073C>T (TTN) | XP_024308863.1:p.Gln34025Ter | |
| XM_024453096.1:c.101506C>T (TTN) | XP_024308864.1:p.Gln33836Ter | |
| XM_024453097.1:c.98848C>T (TTN) | XP_024308865.1:p.Gln32950Ter | |
| XM_024453098.1:c.98767C>T (TTN) | XP_024308866.1:p.Gln32923Ter | |
| XM_024453099.1:c.80530C>T (TTN) | XP_024308867.1:p.Gln26844Ter | |
| XM_024453100.1:c.70384C>T (TTN) | XP_024308868.1:p.Gln23462Ter |