Linked Data
ClinVar Variation Id:
47332
ClinVar RCV Id:
RCV000040602
RCV000249030
RCV000471721
RCV000768930
RCV001086359
RCV001128971
RCV001128973
RCV001128972
RCV001128974
RCV001131634
RCV004534927
dbSNP Id:
rs201512527
ExAC:
2:179435964 T / G
gnomAD v2:
2-179435964-T-G
gnomAD v3:
2-178571237-T-G
gnomAD v4:
2-178571237-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571237T>G , CM000664.2:g.178571237T>G | GRCh38 |
| NC_000002.11:g.179435964T>G , CM000664.1:g.179435964T>G | GRCh37 |
| NC_000002.10:g.179144210T>G | NCBI36 |
| NG_011618.3:g.264566A>C , LRG_391:g.264566A>C | |
| NG_051363.1:g.53411T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67191A>C (TTN) | ENSP00000343764.6:p.Gln22397His | |
| ENST00000342175.11:c.48276A>C (TTN) | ENSP00000340554.6:p.Gln16092His | |
| ENST00000359218.10:c.48075A>C (TTN) | ENSP00000352154.5:p.Gln16025His | |
| ENST00000342175.10:c.48276A>C (TTN) | ENSP00000340554.6:p.Gln16092His | |
| ENST00000342992.10:c.67191A>C (TTN) | ENSP00000343764.6:p.Gln22397His | |
| ENST00000359218.9:c.48075A>C (TTN) | ENSP00000352154.5:p.Gln16025His | |
| ENST00000460472.6:c.47700A>C (TTN) | ENSP00000434586.1:p.Gln15900His | |
| ENST00000589042.5:c.74895A>C (TTN) MANE Select | ENSP00000467141.1:p.Gln24965His | |
| ENST00000591111.5:c.69972A>C (TTN) | ENSP00000465570.1:p.Gln23324His | |
| ENST00000615779.4:c.69972A>C (TTN) | ENSP00000483597.1:p.Gln23324His | |
| NM_001256850.1:c.69972A>C (TTN) | NP_001243779.1:p.Gln23324His | |
| NM_001267550.2:c.74895A>C (TTN) MANE Select | NP_001254479.2:p.Gln24965His | |
| NM_003319.4:c.47700A>C (TTN) | NP_003310.4:p.Gln15900His | |
| NM_133378.4:c.67191A>C (TTN) | NP_596869.4:p.Gln22397His | |
| NM_133432.3:c.48075A>C (TTN) | NP_597676.3:p.Gln16025His | |
| NM_133437.4:c.48276A>C (TTN) | NP_597681.4:p.Gln16092His | |
| NR_038271.1:n.447-63T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-11335T>G (TTN-AS1) | ||
| XM_011511729.1:c.73992A>C (TTN) | XP_011510031.1:p.Gln24664His | |
| XM_011511730.1:c.47886A>C (TTN) | XP_011510032.1:p.Gln15962His | |
| XM_011511731.1:c.47745A>C (TTN) | XP_011510033.1:p.Gln15915His | |
| XM_017004819.1:c.73788A>C (TTN) | XP_016860308.1:p.Gln24596His | |
| XM_017004820.1:c.69186A>C (TTN) | XP_016860309.1:p.Gln23062His | |
| XM_017004821.1:c.69183A>C (TTN) | XP_016860310.1:p.Gln23061His | |
| XM_017004822.1:c.66225A>C (TTN) | XP_016860311.1:p.Gln22075His | |
| XM_017004823.1:c.47841A>C (TTN) | XP_016860312.1:p.Gln15947His | |
| XM_024453094.1:c.69336A>C (TTN) | XP_024308862.1:p.Gln23112His | |
| XM_024453095.1:c.69333A>C (TTN) | XP_024308863.1:p.Gln23111His | |
| XM_024453096.1:c.68766A>C (TTN) | XP_024308864.1:p.Gln22922His | |
| XM_024453097.1:c.66108A>C (TTN) | XP_024308865.1:p.Gln22036His | |
| XM_024453098.1:c.66027A>C (TTN) | XP_024308866.1:p.Gln22009His | |
| XM_024453099.1:c.47790A>C (TTN) | XP_024308867.1:p.Gln15930His | |
| XM_024453100.1:c.37644A>C (TTN) | XP_024308868.1:p.Gln12548His |