Linked Data
ClinVar Variation Id:
196647
dbSNP Id:
rs778478048
ExAC:
2:179401669 T / C
gnomAD v2:
2-179401669-T-C
gnomAD v3:
2-178536942-T-C
gnomAD v4:
2-178536942-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536942T>C , CM000664.2:g.178536942T>C | GRCh38 |
| NC_000002.11:g.179401669T>C , CM000664.1:g.179401669T>C | GRCh37 |
| NC_000002.10:g.179109915T>C | NCBI36 |
| NG_011618.3:g.298861A>G , LRG_391:g.298861A>G | |
| NG_051363.1:g.19116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92463A>G (TTN) | ENSP00000343764.6:p.Pro30821= | |
| ENST00000342175.11:c.73548A>G (TTN) | ENSP00000340554.6:p.Pro24516= | |
| ENST00000359218.10:c.73347A>G (TTN) | ENSP00000352154.5:p.Pro24449= | |
| ENST00000342175.10:c.73548A>G (TTN) | ENSP00000340554.6:p.Pro24516= | |
| ENST00000342992.10:c.92463A>G (TTN) | ENSP00000343764.6:p.Pro30821= | |
| ENST00000359218.9:c.73347A>G (TTN) | ENSP00000352154.5:p.Pro24449= | |
| ENST00000460472.6:c.72972A>G (TTN) | ENSP00000434586.1:p.Pro24324= | |
| ENST00000589042.5:c.100167A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro33389= | |
| ENST00000591111.5:c.95244A>G (TTN) | ENSP00000465570.1:p.Pro31748= | |
| ENST00000615779.4:c.95244A>G (TTN) | ENSP00000483597.1:p.Pro31748= | |
| NM_001256850.1:c.95244A>G (TTN) | NP_001243779.1:p.Pro31748= | |
| NM_001267550.2:c.100167A>G (TTN) MANE Select | NP_001254479.2:p.Pro33389= | |
| NM_003319.4:c.72972A>G (TTN) | NP_003310.4:p.Pro24324= | |
| NM_133378.4:c.92463A>G (TTN) | NP_596869.4:p.Pro30821= | |
| NM_133432.3:c.73347A>G (TTN) | NP_597676.3:p.Pro24449= | |
| NM_133437.4:c.73548A>G (TTN) | NP_597681.4:p.Pro24516= | |
| NR_038271.1:n.446+13306T>C (TTN-AS1) | ||
| NR_038272.1:n.317-419T>C (TTN-AS1) | ||
| XM_011511729.1:c.99264A>G (TTN) | XP_011510031.1:p.Pro33088= | |
| XM_011511730.1:c.73158A>G (TTN) | XP_011510032.1:p.Pro24386= | |
| XM_011511731.1:c.73017A>G (TTN) | XP_011510033.1:p.Pro24339= | |
| XM_017004819.1:c.99060A>G (TTN) | XP_016860308.1:p.Pro33020= | |
| XM_017004820.1:c.94458A>G (TTN) | XP_016860309.1:p.Pro31486= | |
| XM_017004821.1:c.94455A>G (TTN) | XP_016860310.1:p.Pro31485= | |
| XM_017004822.1:c.91497A>G (TTN) | XP_016860311.1:p.Pro30499= | |
| XM_017004823.1:c.73113A>G (TTN) | XP_016860312.1:p.Pro24371= | |
| XM_024453094.1:c.94608A>G (TTN) | XP_024308862.1:p.Pro31536= | |
| XM_024453095.1:c.94605A>G (TTN) | XP_024308863.1:p.Pro31535= | |
| XM_024453096.1:c.94038A>G (TTN) | XP_024308864.1:p.Pro31346= | |
| XM_024453097.1:c.91380A>G (TTN) | XP_024308865.1:p.Pro30460= | |
| XM_024453098.1:c.91299A>G (TTN) | XP_024308866.1:p.Pro30433= | |
| XM_024453099.1:c.73062A>G (TTN) | XP_024308867.1:p.Pro24354= | |
| XM_024453100.1:c.62916A>G (TTN) | XP_024308868.1:p.Pro20972= |