Linked Data
ClinVar Variation Id:
47421
ClinVar RCV Id:
RCV000040691
RCV000172628
RCV000252102
RCV001130325
RCV001130327
RCV001130324
RCV001130326
RCV000476606
RCV001130323
RCV001170783
dbSNP Id:
rs201896662
ExAC:
2:179427688 A / C
gnomAD v2:
2-179427688-A-C
gnomAD v3:
2-178562961-A-C
gnomAD v4:
2-178562961-A-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562961A>C , CM000664.2:g.178562961A>C | GRCh38 |
| NC_000002.11:g.179427688A>C , CM000664.1:g.179427688A>C | GRCh37 |
| NC_000002.10:g.179135934A>C | NCBI36 |
| NG_011618.3:g.272842T>G , LRG_391:g.272842T>G | |
| NG_051363.1:g.45135A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75467T>G (TTN) | ENSP00000343764.6:p.Val25156Gly | |
| ENST00000342175.11:c.56552T>G (TTN) | ENSP00000340554.6:p.Val18851Gly | |
| ENST00000359218.10:c.56351T>G (TTN) | ENSP00000352154.5:p.Val18784Gly | |
| ENST00000342175.10:c.56552T>G (TTN) | ENSP00000340554.6:p.Val18851Gly | |
| ENST00000342992.10:c.75467T>G (TTN) | ENSP00000343764.6:p.Val25156Gly | |
| ENST00000359218.9:c.56351T>G (TTN) | ENSP00000352154.5:p.Val18784Gly | |
| ENST00000460472.6:c.55976T>G (TTN) | ENSP00000434586.1:p.Val18659Gly | |
| ENST00000589042.5:c.83171T>G (TTN) MANE Select | ENSP00000467141.1:p.Val27724Gly | |
| ENST00000591111.5:c.78248T>G (TTN) | ENSP00000465570.1:p.Val26083Gly | |
| ENST00000615779.4:c.78248T>G (TTN) | ENSP00000483597.1:p.Val26083Gly | |
| NM_001256850.1:c.78248T>G (TTN) | NP_001243779.1:p.Val26083Gly | |
| NM_001267550.2:c.83171T>G (TTN) MANE Select | NP_001254479.2:p.Val27724Gly | |
| NM_003319.4:c.55976T>G (TTN) | NP_003310.4:p.Val18659Gly | |
| NM_133378.4:c.75467T>G (TTN) | NP_596869.4:p.Val25156Gly | |
| NM_133432.3:c.56351T>G (TTN) | NP_597676.3:p.Val18784Gly | |
| NM_133437.4:c.56552T>G (TTN) | NP_597681.4:p.Val18851Gly | |
| NR_038271.1:n.447-8339A>C (TTN-AS1) | ||
| NR_038272.1:n.2044-19611A>C (TTN-AS1) | ||
| XM_011511729.1:c.82268T>G (TTN) | XP_011510031.1:p.Val27423Gly | |
| XM_011511730.1:c.56162T>G (TTN) | XP_011510032.1:p.Val18721Gly | |
| XM_011511731.1:c.56021T>G (TTN) | XP_011510033.1:p.Val18674Gly | |
| XM_017004819.1:c.82064T>G (TTN) | XP_016860308.1:p.Val27355Gly | |
| XM_017004820.1:c.77462T>G (TTN) | XP_016860309.1:p.Val25821Gly | |
| XM_017004821.1:c.77459T>G (TTN) | XP_016860310.1:p.Val25820Gly | |
| XM_017004822.1:c.74501T>G (TTN) | XP_016860311.1:p.Val24834Gly | |
| XM_017004823.1:c.56117T>G (TTN) | XP_016860312.1:p.Val18706Gly | |
| XM_024453094.1:c.77612T>G (TTN) | XP_024308862.1:p.Val25871Gly | |
| XM_024453095.1:c.77609T>G (TTN) | XP_024308863.1:p.Val25870Gly | |
| XM_024453096.1:c.77042T>G (TTN) | XP_024308864.1:p.Val25681Gly | |
| XM_024453097.1:c.74384T>G (TTN) | XP_024308865.1:p.Val24795Gly | |
| XM_024453098.1:c.74303T>G (TTN) | XP_024308866.1:p.Val24768Gly | |
| XM_024453099.1:c.56066T>G (TTN) | XP_024308867.1:p.Val18689Gly | |
| XM_024453100.1:c.45920T>G (TTN) | XP_024308868.1:p.Val15307Gly |