Linked Data
ClinVar Variation Id:
165951
ClinVar RCV Id:
RCV000152280
RCV000468153
RCV000726091
RCV000852836
RCV001130069
RCV001130070
RCV001130071
RCV001130072
RCV001130073
dbSNP Id:
rs200778464
ExAC:
2:179462331 C / G
gnomAD v2:
2-179462331-C-G
gnomAD v3:
2-178597604-C-G
gnomAD v4:
2-178597604-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178597604C>G , CM000664.2:g.178597604C>G | GRCh38 |
| NC_000002.11:g.179462331C>G , CM000664.1:g.179462331C>G | GRCh37 |
| NC_000002.10:g.179170576C>G | NCBI36 |
| NG_011618.3:g.238199G>C , LRG_391:g.238199G>C | |
| NG_051363.1:g.79778C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49774G>C (TTN) | ENSP00000343764.6:p.Val16592Leu | |
| ENST00000342175.11:c.30859G>C (TTN) | ENSP00000340554.6:p.Val10287Leu | |
| ENST00000359218.10:c.30658G>C (TTN) | ENSP00000352154.5:p.Val10220Leu | |
| ENST00000342175.10:c.30859G>C (TTN) | ENSP00000340554.6:p.Val10287Leu | |
| ENST00000342992.10:c.49774G>C (TTN) | ENSP00000343764.6:p.Val16592Leu | |
| ENST00000359218.9:c.30658G>C (TTN) | ENSP00000352154.5:p.Val10220Leu | |
| ENST00000460472.6:c.30283G>C (TTN) | ENSP00000434586.1:p.Val10095Leu | |
| ENST00000589042.5:c.57478G>C (TTN) MANE Select | ENSP00000467141.1:p.Val19160Leu | |
| ENST00000591111.5:c.52555G>C (TTN) | ENSP00000465570.1:p.Val17519Leu | |
| ENST00000615779.4:c.52555G>C (TTN) | ENSP00000483597.1:p.Val17519Leu | |
| NM_001256850.1:c.52555G>C (TTN) | NP_001243779.1:p.Val17519Leu | |
| NM_001267550.2:c.57478G>C (TTN) MANE Select | NP_001254479.2:p.Val19160Leu | |
| NM_003319.4:c.30283G>C (TTN) | NP_003310.4:p.Val10095Leu | |
| NM_133378.4:c.49774G>C (TTN) | NP_596869.4:p.Val16592Leu | |
| NM_133432.3:c.30658G>C (TTN) | NP_597676.3:p.Val10220Leu | |
| NM_133437.4:c.30859G>C (TTN) | NP_597681.4:p.Val10287Leu | |
| NR_038271.1:n.605C>G (TTN-AS1) | ||
| NR_038272.1:n.3373C>G (TTN-AS1) | ||
| XM_011511729.1:c.56575G>C (TTN) | XP_011510031.1:p.Val18859Leu | |
| XM_011511730.1:c.30469G>C (TTN) | XP_011510032.1:p.Val10157Leu | |
| XM_011511731.1:c.30328G>C (TTN) | XP_011510033.1:p.Val10110Leu | |
| XM_017004819.1:c.56371G>C (TTN) | XP_016860308.1:p.Val18791Leu | |
| XM_017004820.1:c.51769G>C (TTN) | XP_016860309.1:p.Val17257Leu | |
| XM_017004821.1:c.51766G>C (TTN) | XP_016860310.1:p.Val17256Leu | |
| XM_017004822.1:c.48808G>C (TTN) | XP_016860311.1:p.Val16270Leu | |
| XM_017004823.1:c.30424G>C (TTN) | XP_016860312.1:p.Val10142Leu | |
| XM_024453094.1:c.51919G>C (TTN) | XP_024308862.1:p.Val17307Leu | |
| XM_024453095.1:c.51916G>C (TTN) | XP_024308863.1:p.Val17306Leu | |
| XM_024453096.1:c.51349G>C (TTN) | XP_024308864.1:p.Val17117Leu | |
| XM_024453097.1:c.48691G>C (TTN) | XP_024308865.1:p.Val16231Leu | |
| XM_024453098.1:c.48610G>C (TTN) | XP_024308866.1:p.Val16204Leu | |
| XM_024453099.1:c.30373G>C (TTN) | XP_024308867.1:p.Val10125Leu | |
| XM_024453100.1:c.20227G>C (TTN) | XP_024308868.1:p.Val6743Leu |