Linked Data
ClinVar Variation Id:
47579
ClinVar RCV Id:
RCV000040848
RCV000185032
RCV000242748
RCV001130310
RCV001135351
RCV001135352
RCV001135353
RCV001135354
RCV001798203
RCV001085595
dbSNP Id:
rs202064385
ExAC:
2:179407482 G / A
gnomAD v2:
2-179407482-G-A
gnomAD v3:
2-178542755-G-A
gnomAD v4:
2-178542755-G-A
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542755G>A , CM000664.2:g.178542755G>A | GRCh38 |
| NC_000002.11:g.179407482G>A , CM000664.1:g.179407482G>A | GRCh37 |
| NC_000002.10:g.179115728G>A | NCBI36 |
| NG_011618.3:g.293048C>T , LRG_391:g.293048C>T | |
| NG_051363.1:g.24929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89395C>T (TTN) | ENSP00000343764.6:p.Arg29799Cys | |
| ENST00000342175.11:c.70480C>T (TTN) | ENSP00000340554.6:p.Arg23494Cys | |
| ENST00000359218.10:c.70279C>T (TTN) | ENSP00000352154.5:p.Arg23427Cys | |
| ENST00000342175.10:c.70480C>T (TTN) | ENSP00000340554.6:p.Arg23494Cys | |
| ENST00000342992.10:c.89395C>T (TTN) | ENSP00000343764.6:p.Arg29799Cys | |
| ENST00000359218.9:c.70279C>T (TTN) | ENSP00000352154.5:p.Arg23427Cys | |
| ENST00000460472.6:c.69904C>T (TTN) | ENSP00000434586.1:p.Arg23302Cys | |
| ENST00000589042.5:c.97099C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32367Cys | |
| ENST00000591111.5:c.92176C>T (TTN) | ENSP00000465570.1:p.Arg30726Cys | |
| ENST00000615779.4:c.92176C>T (TTN) | ENSP00000483597.1:p.Arg30726Cys | |
| NM_001256850.1:c.92176C>T (TTN) | NP_001243779.1:p.Arg30726Cys | |
| NM_001267550.2:c.97099C>T (TTN) MANE Select | NP_001254479.2:p.Arg32367Cys | |
| NM_003319.4:c.69904C>T (TTN) | NP_003310.4:p.Arg23302Cys | |
| NM_133378.4:c.89395C>T (TTN) | NP_596869.4:p.Arg29799Cys | |
| NM_133432.3:c.70279C>T (TTN) | NP_597676.3:p.Arg23427Cys | |
| NM_133437.4:c.70480C>T (TTN) | NP_597681.4:p.Arg23494Cys | |
| NR_038271.1:n.446+19119G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+394G>A (TTN-AS1) | ||
| XM_011511729.1:c.96196C>T (TTN) | XP_011510031.1:p.Arg32066Cys | |
| XM_011511730.1:c.70090C>T (TTN) | XP_011510032.1:p.Arg23364Cys | |
| XM_011511731.1:c.69949C>T (TTN) | XP_011510033.1:p.Arg23317Cys | |
| XM_017004819.1:c.95992C>T (TTN) | XP_016860308.1:p.Arg31998Cys | |
| XM_017004820.1:c.91390C>T (TTN) | XP_016860309.1:p.Arg30464Cys | |
| XM_017004821.1:c.91387C>T (TTN) | XP_016860310.1:p.Arg30463Cys | |
| XM_017004822.1:c.88429C>T (TTN) | XP_016860311.1:p.Arg29477Cys | |
| XM_017004823.1:c.70045C>T (TTN) | XP_016860312.1:p.Arg23349Cys | |
| XM_024453094.1:c.91540C>T (TTN) | XP_024308862.1:p.Arg30514Cys | |
| XM_024453095.1:c.91537C>T (TTN) | XP_024308863.1:p.Arg30513Cys | |
| XM_024453096.1:c.90970C>T (TTN) | XP_024308864.1:p.Arg30324Cys | |
| XM_024453097.1:c.88312C>T (TTN) | XP_024308865.1:p.Arg29438Cys | |
| XM_024453098.1:c.88231C>T (TTN) | XP_024308866.1:p.Arg29411Cys | |
| XM_024453099.1:c.69994C>T (TTN) | XP_024308867.1:p.Arg23332Cys | |
| XM_024453100.1:c.59848C>T (TTN) | XP_024308868.1:p.Arg19950Cys |