Linked Data
ClinVar Variation Id:
203063
dbSNP Id:
rs766439271
ExAC:
2:179399836 A / T
gnomAD v2:
2-179399836-A-T
gnomAD v3:
2-178535109-A-T
gnomAD v4:
2-178535109-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535109A>T , CM000664.2:g.178535109A>T | GRCh38 |
| NC_000002.11:g.179399836A>T , CM000664.1:g.179399836A>T | GRCh37 |
| NC_000002.10:g.179108082A>T | NCBI36 |
| NG_011618.3:g.300694T>A , LRG_391:g.300694T>A | |
| NG_051363.1:g.17283A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93802T>A (TTN) | ENSP00000343764.6:p.Cys31268Ser | |
| ENST00000342175.11:c.74887T>A (TTN) | ENSP00000340554.6:p.Cys24963Ser | |
| ENST00000359218.10:c.74686T>A (TTN) | ENSP00000352154.5:p.Cys24896Ser | |
| ENST00000342175.10:c.74887T>A (TTN) | ENSP00000340554.6:p.Cys24963Ser | |
| ENST00000342992.10:c.93802T>A (TTN) | ENSP00000343764.6:p.Cys31268Ser | |
| ENST00000359218.9:c.74686T>A (TTN) | ENSP00000352154.5:p.Cys24896Ser | |
| ENST00000460472.6:c.74311T>A (TTN) | ENSP00000434586.1:p.Cys24771Ser | |
| ENST00000589042.5:c.101506T>A (TTN) MANE Select | ENSP00000467141.1:p.Cys33836Ser | |
| ENST00000591111.5:c.96583T>A (TTN) | ENSP00000465570.1:p.Cys32195Ser | |
| ENST00000615779.4:c.96583T>A (TTN) | ENSP00000483597.1:p.Cys32195Ser | |
| NM_001256850.1:c.96583T>A (TTN) | NP_001243779.1:p.Cys32195Ser | |
| NM_001267550.2:c.101506T>A (TTN) MANE Select | NP_001254479.2:p.Cys33836Ser | |
| NM_003319.4:c.74311T>A (TTN) | NP_003310.4:p.Cys24771Ser | |
| NM_133378.4:c.93802T>A (TTN) | NP_596869.4:p.Cys31268Ser | |
| NM_133432.3:c.74686T>A (TTN) | NP_597676.3:p.Cys24896Ser | |
| NM_133437.4:c.74887T>A (TTN) | NP_597681.4:p.Cys24963Ser | |
| NR_038271.1:n.446+11473A>T (TTN-AS1) | ||
| NR_038272.1:n.220-623A>T (TTN-AS1) | ||
| XM_011511729.1:c.100603T>A (TTN) | XP_011510031.1:p.Cys33535Ser | |
| XM_011511730.1:c.74497T>A (TTN) | XP_011510032.1:p.Cys24833Ser | |
| XM_011511731.1:c.74356T>A (TTN) | XP_011510033.1:p.Cys24786Ser | |
| XM_017004819.1:c.100399T>A (TTN) | XP_016860308.1:p.Cys33467Ser | |
| XM_017004820.1:c.95797T>A (TTN) | XP_016860309.1:p.Cys31933Ser | |
| XM_017004821.1:c.95794T>A (TTN) | XP_016860310.1:p.Cys31932Ser | |
| XM_017004822.1:c.92836T>A (TTN) | XP_016860311.1:p.Cys30946Ser | |
| XM_017004823.1:c.74452T>A (TTN) | XP_016860312.1:p.Cys24818Ser | |
| XM_024453094.1:c.95947T>A (TTN) | XP_024308862.1:p.Cys31983Ser | |
| XM_024453095.1:c.95944T>A (TTN) | XP_024308863.1:p.Cys31982Ser | |
| XM_024453096.1:c.95377T>A (TTN) | XP_024308864.1:p.Cys31793Ser | |
| XM_024453097.1:c.92719T>A (TTN) | XP_024308865.1:p.Cys30907Ser | |
| XM_024453098.1:c.92638T>A (TTN) | XP_024308866.1:p.Cys30880Ser | |
| XM_024453099.1:c.74401T>A (TTN) | XP_024308867.1:p.Cys24801Ser | |
| XM_024453100.1:c.64255T>A (TTN) | XP_024308868.1:p.Cys21419Ser |