Linked Data
ClinVar Variation Id:
238829
ClinVar RCV Id:
RCV000230848
RCV000250526
RCV000604421
RCV000769971
RCV001131512
RCV001131511
RCV001131513
RCV001131509
RCV001131510
RCV004532867
dbSNP Id:
rs548223512
ExAC:
2:179443948 C / T
gnomAD v2:
2-179443948-C-T
gnomAD v3:
2-178579221-C-T
gnomAD v4:
2-178579221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579221C>T , CM000664.2:g.178579221C>T | GRCh38 |
| NC_000002.11:g.179443948C>T , CM000664.1:g.179443948C>T | GRCh37 |
| NC_000002.10:g.179152194C>T | NCBI36 |
| NG_011618.3:g.256582G>A , LRG_391:g.256582G>A | |
| NG_051363.1:g.61395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60105G>A (TTN) | ENSP00000343764.6:p.Ala20035= | |
| ENST00000342175.11:c.41190G>A (TTN) | ENSP00000340554.6:p.Ala13730= | |
| ENST00000359218.10:c.40989G>A (TTN) | ENSP00000352154.5:p.Ala13663= | |
| ENST00000342175.10:c.41190G>A (TTN) | ENSP00000340554.6:p.Ala13730= | |
| ENST00000342992.10:c.60105G>A (TTN) | ENSP00000343764.6:p.Ala20035= | |
| ENST00000359218.9:c.40989G>A (TTN) | ENSP00000352154.5:p.Ala13663= | |
| ENST00000460472.6:c.40614G>A (TTN) | ENSP00000434586.1:p.Ala13538= | |
| ENST00000589042.5:c.67809G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala22603= | |
| ENST00000591111.5:c.62886G>A (TTN) | ENSP00000465570.1:p.Ala20962= | |
| ENST00000615779.4:c.62886G>A (TTN) | ENSP00000483597.1:p.Ala20962= | |
| NM_001256850.1:c.62886G>A (TTN) | NP_001243779.1:p.Ala20962= | |
| NM_001267550.2:c.67809G>A (TTN) MANE Select | NP_001254479.2:p.Ala22603= | |
| NM_003319.4:c.40614G>A (TTN) | NP_003310.4:p.Ala13538= | |
| NM_133378.4:c.60105G>A (TTN) | NP_596869.4:p.Ala20035= | |
| NM_133432.3:c.40989G>A (TTN) | NP_597676.3:p.Ala13663= | |
| NM_133437.4:c.41190G>A (TTN) | NP_597681.4:p.Ala13730= | |
| NR_038271.1:n.596+7772C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-3351C>T (TTN-AS1) | ||
| XM_011511729.1:c.66906G>A (TTN) | XP_011510031.1:p.Ala22302= | |
| XM_011511730.1:c.40800G>A (TTN) | XP_011510032.1:p.Ala13600= | |
| XM_011511731.1:c.40659G>A (TTN) | XP_011510033.1:p.Ala13553= | |
| XM_017004819.1:c.66702G>A (TTN) | XP_016860308.1:p.Ala22234= | |
| XM_017004820.1:c.62100G>A (TTN) | XP_016860309.1:p.Ala20700= | |
| XM_017004821.1:c.62097G>A (TTN) | XP_016860310.1:p.Ala20699= | |
| XM_017004822.1:c.59139G>A (TTN) | XP_016860311.1:p.Ala19713= | |
| XM_017004823.1:c.40755G>A (TTN) | XP_016860312.1:p.Ala13585= | |
| XM_024453094.1:c.62250G>A (TTN) | XP_024308862.1:p.Ala20750= | |
| XM_024453095.1:c.62247G>A (TTN) | XP_024308863.1:p.Ala20749= | |
| XM_024453096.1:c.61680G>A (TTN) | XP_024308864.1:p.Ala20560= | |
| XM_024453097.1:c.59022G>A (TTN) | XP_024308865.1:p.Ala19674= | |
| XM_024453098.1:c.58941G>A (TTN) | XP_024308866.1:p.Ala19647= | |
| XM_024453099.1:c.40704G>A (TTN) | XP_024308867.1:p.Ala13568= | |
| XM_024453100.1:c.30558G>A (TTN) | XP_024308868.1:p.Ala10186= |