Linked Data
ClinVar Variation Id:
202706
ClinVar RCV Id:
RCV000268363
RCV000303761
RCV000264644
RCV000360879
RCV000299807
RCV000867223
RCV001532425
dbSNP Id:
rs535008556
ExAC:
2:179472566 C / T
gnomAD v2:
2-179472566-C-T
gnomAD v3:
2-178607839-C-T
gnomAD v4:
2-178607839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607839C>T , CM000664.2:g.178607839C>T | GRCh38 |
| NC_000002.11:g.179472566C>T , CM000664.1:g.179472566C>T | GRCh37 |
| NC_000002.10:g.179180811C>T | NCBI36 |
| NG_011618.3:g.227964G>A , LRG_391:g.227964G>A | |
| NG_051363.1:g.90013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45244G>A (TTN) | ENSP00000343764.6:p.Ala15082Thr | |
| ENST00000342175.11:c.26329G>A (TTN) | ENSP00000340554.6:p.Ala8777Thr | |
| ENST00000359218.10:c.26128G>A (TTN) | ENSP00000352154.5:p.Ala8710Thr | |
| ENST00000342175.10:c.26329G>A (TTN) | ENSP00000340554.6:p.Ala8777Thr | |
| ENST00000342992.10:c.45244G>A (TTN) | ENSP00000343764.6:p.Ala15082Thr | |
| ENST00000359218.9:c.26128G>A (TTN) | ENSP00000352154.5:p.Ala8710Thr | |
| ENST00000460472.6:c.25753G>A (TTN) | ENSP00000434586.1:p.Ala8585Thr | |
| ENST00000589042.5:c.52948G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala17650Thr | |
| ENST00000591111.5:c.48025G>A (TTN) | ENSP00000465570.1:p.Ala16009Thr | |
| ENST00000615779.4:c.48025G>A (TTN) | ENSP00000483597.1:p.Ala16009Thr | |
| NM_001256850.1:c.48025G>A (TTN) | NP_001243779.1:p.Ala16009Thr | |
| NM_001267550.2:c.52948G>A (TTN) MANE Select | NP_001254479.2:p.Ala17650Thr | |
| NM_003319.4:c.25753G>A (TTN) | NP_003310.4:p.Ala8585Thr | |
| NM_133378.4:c.45244G>A (TTN) | NP_596869.4:p.Ala15082Thr | |
| NM_133432.3:c.26128G>A (TTN) | NP_597676.3:p.Ala8710Thr | |
| NM_133437.4:c.26329G>A (TTN) | NP_597681.4:p.Ala8777Thr | |
| NR_038271.1:n.683-328C>T (TTN-AS1) | ||
| XM_011511729.1:c.52045G>A (TTN) | XP_011510031.1:p.Ala17349Thr | |
| XM_011511730.1:c.25939G>A (TTN) | XP_011510032.1:p.Ala8647Thr | |
| XM_011511731.1:c.25798G>A (TTN) | XP_011510033.1:p.Ala8600Thr | |
| XM_017004819.1:c.51841G>A (TTN) | XP_016860308.1:p.Ala17281Thr | |
| XM_017004820.1:c.47239G>A (TTN) | XP_016860309.1:p.Ala15747Thr | |
| XM_017004821.1:c.47236G>A (TTN) | XP_016860310.1:p.Ala15746Thr | |
| XM_017004822.1:c.44278G>A (TTN) | XP_016860311.1:p.Ala14760Thr | |
| XM_017004823.1:c.25894G>A (TTN) | XP_016860312.1:p.Ala8632Thr | |
| XM_024453094.1:c.47389G>A (TTN) | XP_024308862.1:p.Ala15797Thr | |
| XM_024453095.1:c.47386G>A (TTN) | XP_024308863.1:p.Ala15796Thr | |
| XM_024453096.1:c.46819G>A (TTN) | XP_024308864.1:p.Ala15607Thr | |
| XM_024453097.1:c.44161G>A (TTN) | XP_024308865.1:p.Ala14721Thr | |
| XM_024453098.1:c.44080G>A (TTN) | XP_024308866.1:p.Ala14694Thr | |
| XM_024453099.1:c.25843G>A (TTN) | XP_024308867.1:p.Ala8615Thr | |
| XM_024453100.1:c.15697G>A (TTN) | XP_024308868.1:p.Ala5233Thr |