Linked Data
ClinVar Variation Id:
47667
ClinVar RCV Id:
RCV000040936
RCV000082473
RCV000241855
RCV001084033
RCV000768829
RCV001135202
RCV001135203
RCV001135205
RCV001135204
RCV001135206
RCV004541196
dbSNP Id:
rs185683410
ExAC:
2:179397091 C / G
gnomAD v2:
2-179397091-C-G
gnomAD v3:
2-178532364-C-G
gnomAD v4:
2-178532364-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532364C>G , CM000664.2:g.178532364C>G | GRCh38 |
| NC_000002.11:g.179397091C>G , CM000664.1:g.179397091C>G | GRCh37 |
| NC_000002.10:g.179105337C>G | NCBI36 |
| NG_011618.3:g.303439G>C , LRG_391:g.303439G>C | |
| NG_051363.1:g.14538C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96547G>C (TTN) | ENSP00000343764.6:p.Ala32183Pro | |
| ENST00000342175.11:c.77632G>C (TTN) | ENSP00000340554.6:p.Ala25878Pro | |
| ENST00000359218.10:c.77431G>C (TTN) | ENSP00000352154.5:p.Ala25811Pro | |
| ENST00000342175.10:c.77632G>C (TTN) | ENSP00000340554.6:p.Ala25878Pro | |
| ENST00000342992.10:c.96547G>C (TTN) | ENSP00000343764.6:p.Ala32183Pro | |
| ENST00000359218.9:c.77431G>C (TTN) | ENSP00000352154.5:p.Ala25811Pro | |
| ENST00000460472.6:c.77056G>C (TTN) | ENSP00000434586.1:p.Ala25686Pro | |
| ENST00000589042.5:c.104251G>C (TTN) MANE Select | ENSP00000467141.1:p.Ala34751Pro | |
| ENST00000591111.5:c.99328G>C (TTN) | ENSP00000465570.1:p.Ala33110Pro | |
| ENST00000615779.4:c.99328G>C (TTN) | ENSP00000483597.1:p.Ala33110Pro | |
| NM_001256850.1:c.99328G>C (TTN) | NP_001243779.1:p.Ala33110Pro | |
| NM_001267550.2:c.104251G>C (TTN) MANE Select | NP_001254479.2:p.Ala34751Pro | |
| NM_003319.4:c.77056G>C (TTN) | NP_003310.4:p.Ala25686Pro | |
| NM_133378.4:c.96547G>C (TTN) | NP_596869.4:p.Ala32183Pro | |
| NM_133432.3:c.77431G>C (TTN) | NP_597676.3:p.Ala25811Pro | |
| NM_133437.4:c.77632G>C (TTN) | NP_597681.4:p.Ala25878Pro | |
| NR_038271.1:n.446+8728C>G (TTN-AS1) | ||
| NR_038272.1:n.220-3368C>G (TTN-AS1) | ||
| XM_011511729.1:c.103348G>C (TTN) | XP_011510031.1:p.Ala34450Pro | |
| XM_011511730.1:c.77242G>C (TTN) | XP_011510032.1:p.Ala25748Pro | |
| XM_011511731.1:c.77101G>C (TTN) | XP_011510033.1:p.Ala25701Pro | |
| XM_017004819.1:c.103144G>C (TTN) | XP_016860308.1:p.Ala34382Pro | |
| XM_017004820.1:c.98542G>C (TTN) | XP_016860309.1:p.Ala32848Pro | |
| XM_017004821.1:c.98539G>C (TTN) | XP_016860310.1:p.Ala32847Pro | |
| XM_017004822.1:c.95581G>C (TTN) | XP_016860311.1:p.Ala31861Pro | |
| XM_017004823.1:c.77197G>C (TTN) | XP_016860312.1:p.Ala25733Pro | |
| XM_024453094.1:c.98692G>C (TTN) | XP_024308862.1:p.Ala32898Pro | |
| XM_024453095.1:c.98689G>C (TTN) | XP_024308863.1:p.Ala32897Pro | |
| XM_024453096.1:c.98122G>C (TTN) | XP_024308864.1:p.Ala32708Pro | |
| XM_024453097.1:c.95464G>C (TTN) | XP_024308865.1:p.Ala31822Pro | |
| XM_024453098.1:c.95383G>C (TTN) | XP_024308866.1:p.Ala31795Pro | |
| XM_024453099.1:c.77146G>C (TTN) | XP_024308867.1:p.Ala25716Pro | |
| XM_024453100.1:c.67000G>C (TTN) | XP_024308868.1:p.Ala22334Pro |