Linked Data
ClinVar Variation Id:
191944
ClinVar RCV Id:
RCV000172312
RCV000242658
RCV000259186
RCV000313378
RCV000354316
RCV000312071
RCV000366773
RCV000277068
RCV000395819
RCV000768993
RCV001082395
RCV004535173
dbSNP Id:
rs201412693
ExAC:
2:179468704 A / G
gnomAD v2:
2-179468704-A-G
gnomAD v3:
2-178603977-A-G
gnomAD v4:
2-178603977-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178603977A>G , CM000664.2:g.178603977A>G | GRCh38 |
| NC_000002.11:g.179468704A>G , CM000664.1:g.179468704A>G | GRCh37 |
| NC_000002.10:g.179176949A>G | NCBI36 |
| NG_011618.3:g.231826T>C , LRG_391:g.231826T>C | |
| NG_051363.1:g.86151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47006T>C (TTN) | ENSP00000343764.6:p.Leu15669Pro | |
| ENST00000342175.11:c.28091T>C (TTN) | ENSP00000340554.6:p.Leu9364Pro | |
| ENST00000359218.10:c.27890T>C (TTN) | ENSP00000352154.5:p.Leu9297Pro | |
| ENST00000342175.10:c.28091T>C (TTN) | ENSP00000340554.6:p.Leu9364Pro | |
| ENST00000342992.10:c.47006T>C (TTN) | ENSP00000343764.6:p.Leu15669Pro | |
| ENST00000359218.9:c.27890T>C (TTN) | ENSP00000352154.5:p.Leu9297Pro | |
| ENST00000460472.6:c.27515T>C (TTN) | ENSP00000434586.1:p.Leu9172Pro | |
| ENST00000589042.5:c.54710T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu18237Pro | |
| ENST00000591111.5:c.49787T>C (TTN) | ENSP00000465570.1:p.Leu16596Pro | |
| ENST00000615779.4:c.49787T>C (TTN) | ENSP00000483597.1:p.Leu16596Pro | |
| NM_001256850.1:c.49787T>C (TTN) | NP_001243779.1:p.Leu16596Pro | |
| NM_001267550.2:c.54710T>C (TTN) MANE Select | NP_001254479.2:p.Leu18237Pro | |
| NM_003319.4:c.27515T>C (TTN) | NP_003310.4:p.Leu9172Pro | |
| NM_133378.4:c.47006T>C (TTN) | NP_596869.4:p.Leu15669Pro | |
| NM_133432.3:c.27890T>C (TTN) | NP_597676.3:p.Leu9297Pro | |
| NM_133437.4:c.28091T>C (TTN) | NP_597681.4:p.Leu9364Pro | |
| NR_038271.1:n.683-4190A>G (TTN-AS1) | ||
| NR_038272.1:n.3918-754A>G (TTN-AS1) | ||
| XM_011511729.1:c.53807T>C (TTN) | XP_011510031.1:p.Leu17936Pro | |
| XM_011511730.1:c.27701T>C (TTN) | XP_011510032.1:p.Leu9234Pro | |
| XM_011511731.1:c.27560T>C (TTN) | XP_011510033.1:p.Leu9187Pro | |
| XM_017004819.1:c.53603T>C (TTN) | XP_016860308.1:p.Leu17868Pro | |
| XM_017004820.1:c.49001T>C (TTN) | XP_016860309.1:p.Leu16334Pro | |
| XM_017004821.1:c.48998T>C (TTN) | XP_016860310.1:p.Leu16333Pro | |
| XM_017004822.1:c.46040T>C (TTN) | XP_016860311.1:p.Leu15347Pro | |
| XM_017004823.1:c.27656T>C (TTN) | XP_016860312.1:p.Leu9219Pro | |
| XM_024453094.1:c.49151T>C (TTN) | XP_024308862.1:p.Leu16384Pro | |
| XM_024453095.1:c.49148T>C (TTN) | XP_024308863.1:p.Leu16383Pro | |
| XM_024453096.1:c.48581T>C (TTN) | XP_024308864.1:p.Leu16194Pro | |
| XM_024453097.1:c.45923T>C (TTN) | XP_024308865.1:p.Leu15308Pro | |
| XM_024453098.1:c.45842T>C (TTN) | XP_024308866.1:p.Leu15281Pro | |
| XM_024453099.1:c.27605T>C (TTN) | XP_024308867.1:p.Leu9202Pro | |
| XM_024453100.1:c.17459T>C (TTN) | XP_024308868.1:p.Leu5820Pro |