Linked Data
ClinVar Variation Id:
165735
ClinVar RCV Id:
RCV000152188
RCV000172199
RCV000309213
RCV000269133
RCV000367439
RCV000326590
RCV000402112
RCV000619946
RCV000642884
RCV001798477
dbSNP Id:
rs200141081
ExAC:
2:179413669 C / T
gnomAD v2:
2-179413669-C-T
gnomAD v3:
2-178548942-C-T
gnomAD v4:
2-178548942-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548942C>T , CM000664.2:g.178548942C>T | GRCh38 |
| NC_000002.11:g.179413669C>T , CM000664.1:g.179413669C>T | GRCh37 |
| NC_000002.10:g.179121915C>T | NCBI36 |
| NG_011618.3:g.286861G>A , LRG_391:g.286861G>A | |
| NG_051363.1:g.31116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84980G>A (TTN) | ENSP00000343764.6:p.Arg28327Gln | |
| ENST00000342175.11:c.66065G>A (TTN) | ENSP00000340554.6:p.Arg22022Gln | |
| ENST00000359218.10:c.65864G>A (TTN) | ENSP00000352154.5:p.Arg21955Gln | |
| ENST00000342175.10:c.66065G>A (TTN) | ENSP00000340554.6:p.Arg22022Gln | |
| ENST00000342992.10:c.84980G>A (TTN) | ENSP00000343764.6:p.Arg28327Gln | |
| ENST00000359218.9:c.65864G>A (TTN) | ENSP00000352154.5:p.Arg21955Gln | |
| ENST00000460472.6:c.65489G>A (TTN) | ENSP00000434586.1:p.Arg21830Gln | |
| ENST00000589042.5:c.92684G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg30895Gln | |
| ENST00000591111.5:c.87761G>A (TTN) | ENSP00000465570.1:p.Arg29254Gln | |
| ENST00000615779.4:c.87761G>A (TTN) | ENSP00000483597.1:p.Arg29254Gln | |
| NM_001256850.1:c.87761G>A (TTN) | NP_001243779.1:p.Arg29254Gln | |
| NM_001267550.2:c.92684G>A (TTN) MANE Select | NP_001254479.2:p.Arg30895Gln | |
| NM_003319.4:c.65489G>A (TTN) | NP_003310.4:p.Arg21830Gln | |
| NM_133378.4:c.84980G>A (TTN) | NP_596869.4:p.Arg28327Gln | |
| NM_133432.3:c.65864G>A (TTN) | NP_597676.3:p.Arg21955Gln | |
| NM_133437.4:c.66065G>A (TTN) | NP_597681.4:p.Arg22022Gln | |
| NR_038271.1:n.447-22358C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6581C>T (TTN-AS1) | ||
| XM_011511729.1:c.91781G>A (TTN) | XP_011510031.1:p.Arg30594Gln | |
| XM_011511730.1:c.65675G>A (TTN) | XP_011510032.1:p.Arg21892Gln | |
| XM_011511731.1:c.65534G>A (TTN) | XP_011510033.1:p.Arg21845Gln | |
| XM_017004819.1:c.91577G>A (TTN) | XP_016860308.1:p.Arg30526Gln | |
| XM_017004820.1:c.86975G>A (TTN) | XP_016860309.1:p.Arg28992Gln | |
| XM_017004821.1:c.86972G>A (TTN) | XP_016860310.1:p.Arg28991Gln | |
| XM_017004822.1:c.84014G>A (TTN) | XP_016860311.1:p.Arg28005Gln | |
| XM_017004823.1:c.65630G>A (TTN) | XP_016860312.1:p.Arg21877Gln | |
| XM_024453094.1:c.87125G>A (TTN) | XP_024308862.1:p.Arg29042Gln | |
| XM_024453095.1:c.87122G>A (TTN) | XP_024308863.1:p.Arg29041Gln | |
| XM_024453096.1:c.86555G>A (TTN) | XP_024308864.1:p.Arg28852Gln | |
| XM_024453097.1:c.83897G>A (TTN) | XP_024308865.1:p.Arg27966Gln | |
| XM_024453098.1:c.83816G>A (TTN) | XP_024308866.1:p.Arg27939Gln | |
| XM_024453099.1:c.65579G>A (TTN) | XP_024308867.1:p.Arg21860Gln | |
| XM_024453100.1:c.55433G>A (TTN) | XP_024308868.1:p.Arg18478Gln |