Linked Data
ClinVar Variation Id:
263758
ClinVar RCV Id:
RCV000253274
RCV000273077
RCV000274079
RCV000328156
RCV000333847
RCV000363491
RCV000608203
RCV000730063
RCV001087668
dbSNP Id:
rs200410212
ExAC:
2:179467274 C / T
gnomAD v2:
2-179467274-C-T
gnomAD v3:
2-178602547-C-T
gnomAD v4:
2-178602547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602547C>T , CM000664.2:g.178602547C>T | GRCh38 |
| NC_000002.11:g.179467274C>T , CM000664.1:g.179467274C>T | GRCh37 |
| NC_000002.10:g.179175519C>T | NCBI36 |
| NG_011618.3:g.233256G>A , LRG_391:g.233256G>A | |
| NG_051363.1:g.84721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47151G>A (TTN) | ENSP00000343764.6:p.Thr15717= | |
| ENST00000342175.11:c.28236G>A (TTN) | ENSP00000340554.6:p.Thr9412= | |
| ENST00000359218.10:c.28035G>A (TTN) | ENSP00000352154.5:p.Thr9345= | |
| ENST00000342175.10:c.28236G>A (TTN) | ENSP00000340554.6:p.Thr9412= | |
| ENST00000342992.10:c.47151G>A (TTN) | ENSP00000343764.6:p.Thr15717= | |
| ENST00000359218.9:c.28035G>A (TTN) | ENSP00000352154.5:p.Thr9345= | |
| ENST00000460472.6:c.27660G>A (TTN) | ENSP00000434586.1:p.Thr9220= | |
| ENST00000589042.5:c.54855G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr18285= | |
| ENST00000591111.5:c.49932G>A (TTN) | ENSP00000465570.1:p.Thr16644= | |
| ENST00000615779.4:c.49932G>A (TTN) | ENSP00000483597.1:p.Thr16644= | |
| NM_001256850.1:c.49932G>A (TTN) | NP_001243779.1:p.Thr16644= | |
| NM_001267550.2:c.54855G>A (TTN) MANE Select | NP_001254479.2:p.Thr18285= | |
| NM_003319.4:c.27660G>A (TTN) | NP_003310.4:p.Thr9220= | |
| NM_133378.4:c.47151G>A (TTN) | NP_596869.4:p.Thr15717= | |
| NM_133432.3:c.28035G>A (TTN) | NP_597676.3:p.Thr9345= | |
| NM_133437.4:c.28236G>A (TTN) | NP_597681.4:p.Thr9412= | |
| NR_038271.1:n.682+4866C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+1880C>T (TTN-AS1) | ||
| XM_011511729.1:c.53952G>A (TTN) | XP_011510031.1:p.Thr17984= | |
| XM_011511730.1:c.27846G>A (TTN) | XP_011510032.1:p.Thr9282= | |
| XM_011511731.1:c.27705G>A (TTN) | XP_011510033.1:p.Thr9235= | |
| XM_017004819.1:c.53748G>A (TTN) | XP_016860308.1:p.Thr17916= | |
| XM_017004820.1:c.49146G>A (TTN) | XP_016860309.1:p.Thr16382= | |
| XM_017004821.1:c.49143G>A (TTN) | XP_016860310.1:p.Thr16381= | |
| XM_017004822.1:c.46185G>A (TTN) | XP_016860311.1:p.Thr15395= | |
| XM_017004823.1:c.27801G>A (TTN) | XP_016860312.1:p.Thr9267= | |
| XM_024453094.1:c.49296G>A (TTN) | XP_024308862.1:p.Thr16432= | |
| XM_024453095.1:c.49293G>A (TTN) | XP_024308863.1:p.Thr16431= | |
| XM_024453096.1:c.48726G>A (TTN) | XP_024308864.1:p.Thr16242= | |
| XM_024453097.1:c.46068G>A (TTN) | XP_024308865.1:p.Thr15356= | |
| XM_024453098.1:c.45987G>A (TTN) | XP_024308866.1:p.Thr15329= | |
| XM_024453099.1:c.27750G>A (TTN) | XP_024308867.1:p.Thr9250= | |
| XM_024453100.1:c.17604G>A (TTN) | XP_024308868.1:p.Thr5868= |