Linked Data
ClinVar Variation Id:
179037
ClinVar RCV Id:
RCV000155821
RCV000415349
RCV000726977
RCV001129493
RCV001129494
RCV001086291
RCV001129490
RCV001129492
RCV001129491
RCV002362823
RCV003486700
dbSNP Id:
rs200766837
ExAC:
2:179412550 T / G
gnomAD v2:
2-179412550-T-G
gnomAD v3:
2-178547823-T-G
gnomAD v4:
2-178547823-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547823T>G , CM000664.2:g.178547823T>G | GRCh38 |
| NC_000002.11:g.179412550T>G , CM000664.1:g.179412550T>G | GRCh37 |
| NC_000002.10:g.179120796T>G | NCBI36 |
| NG_011618.3:g.287980A>C , LRG_391:g.287980A>C | |
| NG_051363.1:g.29997T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86099A>C (TTN) | ENSP00000343764.6:p.Lys28700Thr | |
| ENST00000342175.11:c.67184A>C (TTN) | ENSP00000340554.6:p.Lys22395Thr | |
| ENST00000359218.10:c.66983A>C (TTN) | ENSP00000352154.5:p.Lys22328Thr | |
| ENST00000342175.10:c.67184A>C (TTN) | ENSP00000340554.6:p.Lys22395Thr | |
| ENST00000342992.10:c.86099A>C (TTN) | ENSP00000343764.6:p.Lys28700Thr | |
| ENST00000359218.9:c.66983A>C (TTN) | ENSP00000352154.5:p.Lys22328Thr | |
| ENST00000460472.6:c.66608A>C (TTN) | ENSP00000434586.1:p.Lys22203Thr | |
| ENST00000589042.5:c.93803A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys31268Thr | |
| ENST00000591111.5:c.88880A>C (TTN) | ENSP00000465570.1:p.Lys29627Thr | |
| ENST00000615779.4:c.88880A>C (TTN) | ENSP00000483597.1:p.Lys29627Thr | |
| NM_001256850.1:c.88880A>C (TTN) | NP_001243779.1:p.Lys29627Thr | |
| NM_001267550.2:c.93803A>C (TTN) MANE Select | NP_001254479.2:p.Lys31268Thr | |
| NM_003319.4:c.66608A>C (TTN) | NP_003310.4:p.Lys22203Thr | |
| NM_133378.4:c.86099A>C (TTN) | NP_596869.4:p.Lys28700Thr | |
| NM_133432.3:c.66983A>C (TTN) | NP_597676.3:p.Lys22328Thr | |
| NM_133437.4:c.67184A>C (TTN) | NP_597681.4:p.Lys22395Thr | |
| NR_038271.1:n.447-23477T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+5462T>G (TTN-AS1) | ||
| XM_011511729.1:c.92900A>C (TTN) | XP_011510031.1:p.Lys30967Thr | |
| XM_011511730.1:c.66794A>C (TTN) | XP_011510032.1:p.Lys22265Thr | |
| XM_011511731.1:c.66653A>C (TTN) | XP_011510033.1:p.Lys22218Thr | |
| XM_017004819.1:c.92696A>C (TTN) | XP_016860308.1:p.Lys30899Thr | |
| XM_017004820.1:c.88094A>C (TTN) | XP_016860309.1:p.Lys29365Thr | |
| XM_017004821.1:c.88091A>C (TTN) | XP_016860310.1:p.Lys29364Thr | |
| XM_017004822.1:c.85133A>C (TTN) | XP_016860311.1:p.Lys28378Thr | |
| XM_017004823.1:c.66749A>C (TTN) | XP_016860312.1:p.Lys22250Thr | |
| XM_024453094.1:c.88244A>C (TTN) | XP_024308862.1:p.Lys29415Thr | |
| XM_024453095.1:c.88241A>C (TTN) | XP_024308863.1:p.Lys29414Thr | |
| XM_024453096.1:c.87674A>C (TTN) | XP_024308864.1:p.Lys29225Thr | |
| XM_024453097.1:c.85016A>C (TTN) | XP_024308865.1:p.Lys28339Thr | |
| XM_024453098.1:c.84935A>C (TTN) | XP_024308866.1:p.Lys28312Thr | |
| XM_024453099.1:c.66698A>C (TTN) | XP_024308867.1:p.Lys22233Thr | |
| XM_024453100.1:c.56552A>C (TTN) | XP_024308868.1:p.Lys18851Thr |