Linked Data
ClinVar Variation Id:
47652
ClinVar RCV Id:
RCV000040921
RCV000082470
RCV000622061
RCV000852775
RCV001130524
RCV001130525
RCV001130527
RCV001080039
RCV001130526
RCV001130528
dbSNP Id:
rs56347248
ExAC:
2:179398747 T / C
gnomAD v2:
2-179398747-T-C
gnomAD v3:
2-178534020-T-C
gnomAD v4:
2-178534020-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534020T>C , CM000664.2:g.178534020T>C | GRCh38 |
| NC_000002.11:g.179398747T>C , CM000664.1:g.179398747T>C | GRCh37 |
| NC_000002.10:g.179106993T>C | NCBI36 |
| NG_011618.3:g.301783A>G , LRG_391:g.301783A>G | |
| NG_051363.1:g.16194T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94891A>G (TTN) | ENSP00000343764.6:p.Ile31631Val | |
| ENST00000342175.11:c.75976A>G (TTN) | ENSP00000340554.6:p.Ile25326Val | |
| ENST00000359218.10:c.75775A>G (TTN) | ENSP00000352154.5:p.Ile25259Val | |
| ENST00000342175.10:c.75976A>G (TTN) | ENSP00000340554.6:p.Ile25326Val | |
| ENST00000342992.10:c.94891A>G (TTN) | ENSP00000343764.6:p.Ile31631Val | |
| ENST00000359218.9:c.75775A>G (TTN) | ENSP00000352154.5:p.Ile25259Val | |
| ENST00000460472.6:c.75400A>G (TTN) | ENSP00000434586.1:p.Ile25134Val | |
| ENST00000589042.5:c.102595A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile34199Val | |
| ENST00000591111.5:c.97672A>G (TTN) | ENSP00000465570.1:p.Ile32558Val | |
| ENST00000615779.4:c.97672A>G (TTN) | ENSP00000483597.1:p.Ile32558Val | |
| NM_001256850.1:c.97672A>G (TTN) | NP_001243779.1:p.Ile32558Val | |
| NM_001267550.2:c.102595A>G (TTN) MANE Select | NP_001254479.2:p.Ile34199Val | |
| NM_003319.4:c.75400A>G (TTN) | NP_003310.4:p.Ile25134Val | |
| NM_133378.4:c.94891A>G (TTN) | NP_596869.4:p.Ile31631Val | |
| NM_133432.3:c.75775A>G (TTN) | NP_597676.3:p.Ile25259Val | |
| NM_133437.4:c.75976A>G (TTN) | NP_597681.4:p.Ile25326Val | |
| NR_038271.1:n.446+10384T>C (TTN-AS1) | ||
| NR_038272.1:n.220-1712T>C (TTN-AS1) | ||
| XM_011511729.1:c.101692A>G (TTN) | XP_011510031.1:p.Ile33898Val | |
| XM_011511730.1:c.75586A>G (TTN) | XP_011510032.1:p.Ile25196Val | |
| XM_011511731.1:c.75445A>G (TTN) | XP_011510033.1:p.Ile25149Val | |
| XM_017004819.1:c.101488A>G (TTN) | XP_016860308.1:p.Ile33830Val | |
| XM_017004820.1:c.96886A>G (TTN) | XP_016860309.1:p.Ile32296Val | |
| XM_017004821.1:c.96883A>G (TTN) | XP_016860310.1:p.Ile32295Val | |
| XM_017004822.1:c.93925A>G (TTN) | XP_016860311.1:p.Ile31309Val | |
| XM_017004823.1:c.75541A>G (TTN) | XP_016860312.1:p.Ile25181Val | |
| XM_024453094.1:c.97036A>G (TTN) | XP_024308862.1:p.Ile32346Val | |
| XM_024453095.1:c.97033A>G (TTN) | XP_024308863.1:p.Ile32345Val | |
| XM_024453096.1:c.96466A>G (TTN) | XP_024308864.1:p.Ile32156Val | |
| XM_024453097.1:c.93808A>G (TTN) | XP_024308865.1:p.Ile31270Val | |
| XM_024453098.1:c.93727A>G (TTN) | XP_024308866.1:p.Ile31243Val | |
| XM_024453099.1:c.75490A>G (TTN) | XP_024308867.1:p.Ile25164Val | |
| XM_024453100.1:c.65344A>G (TTN) | XP_024308868.1:p.Ile21782Val |