Linked Data
ClinVar Variation Id:
196096
dbSNP Id:
rs55898359
ExAC:
2:179421775 C / A
gnomAD v2:
2-179421775-C-A
gnomAD v3:
2-178557048-C-A
gnomAD v4:
2-178557048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557048C>A , CM000664.2:g.178557048C>A | GRCh38 |
| NC_000002.11:g.179421775C>A , CM000664.1:g.179421775C>A | GRCh37 |
| NC_000002.10:g.179130021C>A | NCBI36 |
| NG_011618.3:g.278755G>T , LRG_391:g.278755G>T | |
| NG_051363.1:g.39222C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80402G>T (TTN) | ENSP00000343764.6:p.Gly26801Val | |
| ENST00000342175.11:c.61487G>T (TTN) | ENSP00000340554.6:p.Gly20496Val | |
| ENST00000359218.10:c.61286G>T (TTN) | ENSP00000352154.5:p.Gly20429Val | |
| ENST00000342175.10:c.61487G>T (TTN) | ENSP00000340554.6:p.Gly20496Val | |
| ENST00000342992.10:c.80402G>T (TTN) | ENSP00000343764.6:p.Gly26801Val | |
| ENST00000359218.9:c.61286G>T (TTN) | ENSP00000352154.5:p.Gly20429Val | |
| ENST00000460472.6:c.60911G>T (TTN) | ENSP00000434586.1:p.Gly20304Val | |
| ENST00000589042.5:c.88106G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly29369Val | |
| ENST00000591111.5:c.83183G>T (TTN) | ENSP00000465570.1:p.Gly27728Val | |
| ENST00000615779.4:c.83183G>T (TTN) | ENSP00000483597.1:p.Gly27728Val | |
| NM_001256850.1:c.83183G>T (TTN) | NP_001243779.1:p.Gly27728Val | |
| NM_001267550.2:c.88106G>T (TTN) MANE Select | NP_001254479.2:p.Gly29369Val | |
| NM_003319.4:c.60911G>T (TTN) | NP_003310.4:p.Gly20304Val | |
| NM_133378.4:c.80402G>T (TTN) | NP_596869.4:p.Gly26801Val | |
| NM_133432.3:c.61286G>T (TTN) | NP_597676.3:p.Gly20429Val | |
| NM_133437.4:c.61487G>T (TTN) | NP_597681.4:p.Gly20496Val | |
| NR_038271.1:n.447-14252C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+14687C>A (TTN-AS1) | ||
| XM_011511729.1:c.87203G>T (TTN) | XP_011510031.1:p.Gly29068Val | |
| XM_011511730.1:c.61097G>T (TTN) | XP_011510032.1:p.Gly20366Val | |
| XM_011511731.1:c.60956G>T (TTN) | XP_011510033.1:p.Gly20319Val | |
| XM_017004819.1:c.86999G>T (TTN) | XP_016860308.1:p.Gly29000Val | |
| XM_017004820.1:c.82397G>T (TTN) | XP_016860309.1:p.Gly27466Val | |
| XM_017004821.1:c.82394G>T (TTN) | XP_016860310.1:p.Gly27465Val | |
| XM_017004822.1:c.79436G>T (TTN) | XP_016860311.1:p.Gly26479Val | |
| XM_017004823.1:c.61052G>T (TTN) | XP_016860312.1:p.Gly20351Val | |
| XM_024453094.1:c.82547G>T (TTN) | XP_024308862.1:p.Gly27516Val | |
| XM_024453095.1:c.82544G>T (TTN) | XP_024308863.1:p.Gly27515Val | |
| XM_024453096.1:c.81977G>T (TTN) | XP_024308864.1:p.Gly27326Val | |
| XM_024453097.1:c.79319G>T (TTN) | XP_024308865.1:p.Gly26440Val | |
| XM_024453098.1:c.79238G>T (TTN) | XP_024308866.1:p.Gly26413Val | |
| XM_024453099.1:c.61001G>T (TTN) | XP_024308867.1:p.Gly20334Val | |
| XM_024453100.1:c.50855G>T (TTN) | XP_024308868.1:p.Gly16952Val |