Linked Data
ClinVar Variation Id:
47662
ClinVar RCV Id:
RCV000040931
RCV000245149
RCV000264463
RCV000263262
RCV000316083
RCV000322000
RCV000355491
RCV000361393
RCV001083917
RCV000725310
RCV001798211
RCV004534957
dbSNP Id:
rs55945684
ExAC:
2:179397654 A / G
gnomAD v2:
2-179397654-A-G
gnomAD v3:
2-178532927-A-G
gnomAD v4:
2-178532927-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532927A>G , CM000664.2:g.178532927A>G | GRCh38 |
| NC_000002.11:g.179397654A>G , CM000664.1:g.179397654A>G | GRCh37 |
| NC_000002.10:g.179105900A>G | NCBI36 |
| NG_011618.3:g.302876T>C , LRG_391:g.302876T>C | |
| NG_051363.1:g.15101A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95984T>C (TTN) | ENSP00000343764.6:p.Val31995Ala | |
| ENST00000342175.11:c.77069T>C (TTN) | ENSP00000340554.6:p.Val25690Ala | |
| ENST00000359218.10:c.76868T>C (TTN) | ENSP00000352154.5:p.Val25623Ala | |
| ENST00000342175.10:c.77069T>C (TTN) | ENSP00000340554.6:p.Val25690Ala | |
| ENST00000342992.10:c.95984T>C (TTN) | ENSP00000343764.6:p.Val31995Ala | |
| ENST00000359218.9:c.76868T>C (TTN) | ENSP00000352154.5:p.Val25623Ala | |
| ENST00000460472.6:c.76493T>C (TTN) | ENSP00000434586.1:p.Val25498Ala | |
| ENST00000589042.5:c.103688T>C (TTN) MANE Select | ENSP00000467141.1:p.Val34563Ala | |
| ENST00000591111.5:c.98765T>C (TTN) | ENSP00000465570.1:p.Val32922Ala | |
| ENST00000615779.4:c.98765T>C (TTN) | ENSP00000483597.1:p.Val32922Ala | |
| NM_001256850.1:c.98765T>C (TTN) | NP_001243779.1:p.Val32922Ala | |
| NM_001267550.2:c.103688T>C (TTN) MANE Select | NP_001254479.2:p.Val34563Ala | |
| NM_003319.4:c.76493T>C (TTN) | NP_003310.4:p.Val25498Ala | |
| NM_133378.4:c.95984T>C (TTN) | NP_596869.4:p.Val31995Ala | |
| NM_133432.3:c.76868T>C (TTN) | NP_597676.3:p.Val25623Ala | |
| NM_133437.4:c.77069T>C (TTN) | NP_597681.4:p.Val25690Ala | |
| NR_038271.1:n.446+9291A>G (TTN-AS1) | ||
| NR_038272.1:n.220-2805A>G (TTN-AS1) | ||
| XM_011511729.1:c.102785T>C (TTN) | XP_011510031.1:p.Val34262Ala | |
| XM_011511730.1:c.76679T>C (TTN) | XP_011510032.1:p.Val25560Ala | |
| XM_011511731.1:c.76538T>C (TTN) | XP_011510033.1:p.Val25513Ala | |
| XM_017004819.1:c.102581T>C (TTN) | XP_016860308.1:p.Val34194Ala | |
| XM_017004820.1:c.97979T>C (TTN) | XP_016860309.1:p.Val32660Ala | |
| XM_017004821.1:c.97976T>C (TTN) | XP_016860310.1:p.Val32659Ala | |
| XM_017004822.1:c.95018T>C (TTN) | XP_016860311.1:p.Val31673Ala | |
| XM_017004823.1:c.76634T>C (TTN) | XP_016860312.1:p.Val25545Ala | |
| XM_024453094.1:c.98129T>C (TTN) | XP_024308862.1:p.Val32710Ala | |
| XM_024453095.1:c.98126T>C (TTN) | XP_024308863.1:p.Val32709Ala | |
| XM_024453096.1:c.97559T>C (TTN) | XP_024308864.1:p.Val32520Ala | |
| XM_024453097.1:c.94901T>C (TTN) | XP_024308865.1:p.Val31634Ala | |
| XM_024453098.1:c.94820T>C (TTN) | XP_024308866.1:p.Val31607Ala | |
| XM_024453099.1:c.76583T>C (TTN) | XP_024308867.1:p.Val25528Ala | |
| XM_024453100.1:c.66437T>C (TTN) | XP_024308868.1:p.Val22146Ala |