Linked Data
ClinVar Variation Id:
282175
dbSNP Id:
rs368277535
gnomAD v2:
2-179391915-C-A
gnomAD v4:
2-178527188-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527188C>A , CM000664.2:g.178527188C>A | GRCh38 |
| NC_000002.11:g.179391915C>A , CM000664.1:g.179391915C>A | GRCh37 |
| NC_000002.10:g.179100161C>A | NCBI36 |
| NG_011618.3:g.308615G>T , LRG_391:g.308615G>T | |
| NG_051363.1:g.9362C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100096G>T (TTN) | ENSP00000343764.6:p.Gly33366Ter | |
| ENST00000342175.11:c.81181G>T (TTN) | ENSP00000340554.6:p.Gly27061Ter | |
| ENST00000359218.10:c.80980G>T (TTN) | ENSP00000352154.5:p.Gly26994Ter | |
| ENST00000342175.10:c.81181G>T (TTN) | ENSP00000340554.6:p.Gly27061Ter | |
| ENST00000342992.10:c.100096G>T (TTN) | ENSP00000343764.6:p.Gly33366Ter | |
| ENST00000359218.9:c.80980G>T (TTN) | ENSP00000352154.5:p.Gly26994Ter | |
| ENST00000460472.6:c.80605G>T (TTN) | ENSP00000434586.1:p.Gly26869Ter | |
| ENST00000589042.5:c.107800G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly35934Ter | |
| ENST00000591111.5:c.102877G>T (TTN) | ENSP00000465570.1:p.Gly34293Ter | |
| ENST00000615779.4:c.102877G>T (TTN) | ENSP00000483597.1:p.Gly34293Ter | |
| NM_001256850.1:c.102877G>T (TTN) | NP_001243779.1:p.Gly34293Ter | |
| NM_001267550.2:c.107800G>T (TTN) MANE Select | NP_001254479.2:p.Gly35934Ter | |
| NM_003319.4:c.80605G>T (TTN) | NP_003310.4:p.Gly26869Ter | |
| NM_133378.4:c.100096G>T (TTN) | NP_596869.4:p.Gly33366Ter | |
| NM_133432.3:c.80980G>T (TTN) | NP_597676.3:p.Gly26994Ter | |
| NM_133437.4:c.81181G>T (TTN) | NP_597681.4:p.Gly27061Ter | |
| NR_038271.1:n.446+3552C>A (TTN-AS1) | ||
| NR_038272.1:n.219+3552C>A (TTN-AS1) | ||
| XM_011511729.1:c.106897G>T (TTN) | XP_011510031.1:p.Gly35633Ter | |
| XM_011511730.1:c.80791G>T (TTN) | XP_011510032.1:p.Gly26931Ter | |
| XM_011511731.1:c.80650G>T (TTN) | XP_011510033.1:p.Gly26884Ter | |
| XM_017004819.1:c.106693G>T (TTN) | XP_016860308.1:p.Gly35565Ter | |
| XM_017004820.1:c.102091G>T (TTN) | XP_016860309.1:p.Gly34031Ter | |
| XM_017004821.1:c.102088G>T (TTN) | XP_016860310.1:p.Gly34030Ter | |
| XM_017004822.1:c.99130G>T (TTN) | XP_016860311.1:p.Gly33044Ter | |
| XM_017004823.1:c.80746G>T (TTN) | XP_016860312.1:p.Gly26916Ter | |
| XM_024453094.1:c.102241G>T (TTN) | XP_024308862.1:p.Gly34081Ter | |
| XM_024453095.1:c.102238G>T (TTN) | XP_024308863.1:p.Gly34080Ter | |
| XM_024453096.1:c.101671G>T (TTN) | XP_024308864.1:p.Gly33891Ter | |
| XM_024453097.1:c.99013G>T (TTN) | XP_024308865.1:p.Gly33005Ter | |
| XM_024453098.1:c.98932G>T (TTN) | XP_024308866.1:p.Gly32978Ter | |
| XM_024453099.1:c.80695G>T (TTN) | XP_024308867.1:p.Gly26899Ter | |
| XM_024453100.1:c.70549G>T (TTN) | XP_024308868.1:p.Gly23517Ter |