Linked Data
ClinVar Variation Id:
47611
ClinVar RCV Id:
RCV000040880
RCV000226010
RCV000246674
RCV001080938
RCV001132107
RCV001129391
RCV001132108
RCV001132109
RCV001132110
RCV001170523
dbSNP Id:
rs78814506
ExAC:
2:179403525 A / T
gnomAD v2:
2-179403525-A-T
gnomAD v3:
2-178538798-A-T
gnomAD v4:
2-178538798-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538798A>T , CM000664.2:g.178538798A>T | GRCh38 |
| NC_000002.11:g.179403525A>T , CM000664.1:g.179403525A>T | GRCh37 |
| NC_000002.10:g.179111771A>T | NCBI36 |
| NG_011618.3:g.297005T>A , LRG_391:g.297005T>A | |
| NG_051363.1:g.20972A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91327T>A (TTN) | ENSP00000343764.6:p.Ser30443Thr | |
| ENST00000342175.11:c.72412T>A (TTN) | ENSP00000340554.6:p.Ser24138Thr | |
| ENST00000359218.10:c.72211T>A (TTN) | ENSP00000352154.5:p.Ser24071Thr | |
| ENST00000342175.10:c.72412T>A (TTN) | ENSP00000340554.6:p.Ser24138Thr | |
| ENST00000342992.10:c.91327T>A (TTN) | ENSP00000343764.6:p.Ser30443Thr | |
| ENST00000359218.9:c.72211T>A (TTN) | ENSP00000352154.5:p.Ser24071Thr | |
| ENST00000460472.6:c.71836T>A (TTN) | ENSP00000434586.1:p.Ser23946Thr | |
| ENST00000589042.5:c.99031T>A (TTN) MANE Select | ENSP00000467141.1:p.Ser33011Thr | |
| ENST00000591111.5:c.94108T>A (TTN) | ENSP00000465570.1:p.Ser31370Thr | |
| ENST00000615779.4:c.94108T>A (TTN) | ENSP00000483597.1:p.Ser31370Thr | |
| NM_001256850.1:c.94108T>A (TTN) | NP_001243779.1:p.Ser31370Thr | |
| NM_001267550.2:c.99031T>A (TTN) MANE Select | NP_001254479.2:p.Ser33011Thr | |
| NM_003319.4:c.71836T>A (TTN) | NP_003310.4:p.Ser23946Thr | |
| NM_133378.4:c.91327T>A (TTN) | NP_596869.4:p.Ser30443Thr | |
| NM_133432.3:c.72211T>A (TTN) | NP_597676.3:p.Ser24071Thr | |
| NM_133437.4:c.72412T>A (TTN) | NP_597681.4:p.Ser24138Thr | |
| NR_038271.1:n.446+15162A>T (TTN-AS1) | ||
| NR_038272.1:n.748A>T (TTN-AS1) | ||
| XM_011511729.1:c.98128T>A (TTN) | XP_011510031.1:p.Ser32710Thr | |
| XM_011511730.1:c.72022T>A (TTN) | XP_011510032.1:p.Ser24008Thr | |
| XM_011511731.1:c.71881T>A (TTN) | XP_011510033.1:p.Ser23961Thr | |
| XM_017004819.1:c.97924T>A (TTN) | XP_016860308.1:p.Ser32642Thr | |
| XM_017004820.1:c.93322T>A (TTN) | XP_016860309.1:p.Ser31108Thr | |
| XM_017004821.1:c.93319T>A (TTN) | XP_016860310.1:p.Ser31107Thr | |
| XM_017004822.1:c.90361T>A (TTN) | XP_016860311.1:p.Ser30121Thr | |
| XM_017004823.1:c.71977T>A (TTN) | XP_016860312.1:p.Ser23993Thr | |
| XM_024453094.1:c.93472T>A (TTN) | XP_024308862.1:p.Ser31158Thr | |
| XM_024453095.1:c.93469T>A (TTN) | XP_024308863.1:p.Ser31157Thr | |
| XM_024453096.1:c.92902T>A (TTN) | XP_024308864.1:p.Ser30968Thr | |
| XM_024453097.1:c.90244T>A (TTN) | XP_024308865.1:p.Ser30082Thr | |
| XM_024453098.1:c.90163T>A (TTN) | XP_024308866.1:p.Ser30055Thr | |
| XM_024453099.1:c.71926T>A (TTN) | XP_024308867.1:p.Ser23976Thr | |
| XM_024453100.1:c.61780T>A (TTN) | XP_024308868.1:p.Ser20594Thr |