Linked Data
ClinVar Variation Id:
405096
dbSNP Id:
rs200191748
ExAC:
2:179441811 C / T
gnomAD v2:
2-179441811-C-T
gnomAD v3:
2-178577084-C-T
gnomAD v4:
2-178577084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577084C>T , CM000664.2:g.178577084C>T | GRCh38 |
| NC_000002.11:g.179441811C>T , CM000664.1:g.179441811C>T | GRCh37 |
| NC_000002.10:g.179150057C>T | NCBI36 |
| NG_011618.3:g.258719G>A , LRG_391:g.258719G>A | |
| NG_051363.1:g.59258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61547G>A (TTN) | ENSP00000343764.6:p.Arg20516Gln | |
| ENST00000342175.11:c.42632G>A (TTN) | ENSP00000340554.6:p.Arg14211Gln | |
| ENST00000359218.10:c.42431G>A (TTN) | ENSP00000352154.5:p.Arg14144Gln | |
| ENST00000342175.10:c.42632G>A (TTN) | ENSP00000340554.6:p.Arg14211Gln | |
| ENST00000342992.10:c.61547G>A (TTN) | ENSP00000343764.6:p.Arg20516Gln | |
| ENST00000359218.9:c.42431G>A (TTN) | ENSP00000352154.5:p.Arg14144Gln | |
| ENST00000460472.6:c.42056G>A (TTN) | ENSP00000434586.1:p.Arg14019Gln | |
| ENST00000589042.5:c.69251G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg23084Gln | |
| ENST00000591111.5:c.64328G>A (TTN) | ENSP00000465570.1:p.Arg21443Gln | |
| ENST00000615779.4:c.64328G>A (TTN) | ENSP00000483597.1:p.Arg21443Gln | |
| NM_001256850.1:c.64328G>A (TTN) | NP_001243779.1:p.Arg21443Gln | |
| NM_001267550.2:c.69251G>A (TTN) MANE Select | NP_001254479.2:p.Arg23084Gln | |
| NM_003319.4:c.42056G>A (TTN) | NP_003310.4:p.Arg14019Gln | |
| NM_133378.4:c.61547G>A (TTN) | NP_596869.4:p.Arg20516Gln | |
| NM_133432.3:c.42431G>A (TTN) | NP_597676.3:p.Arg14144Gln | |
| NM_133437.4:c.42632G>A (TTN) | NP_597681.4:p.Arg14211Gln | |
| NR_038271.1:n.596+5635C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-5488C>T (TTN-AS1) | ||
| XM_011511729.1:c.68348G>A (TTN) | XP_011510031.1:p.Arg22783Gln | |
| XM_011511730.1:c.42242G>A (TTN) | XP_011510032.1:p.Arg14081Gln | |
| XM_011511731.1:c.42101G>A (TTN) | XP_011510033.1:p.Arg14034Gln | |
| XM_017004819.1:c.68144G>A (TTN) | XP_016860308.1:p.Arg22715Gln | |
| XM_017004820.1:c.63542G>A (TTN) | XP_016860309.1:p.Arg21181Gln | |
| XM_017004821.1:c.63539G>A (TTN) | XP_016860310.1:p.Arg21180Gln | |
| XM_017004822.1:c.60581G>A (TTN) | XP_016860311.1:p.Arg20194Gln | |
| XM_017004823.1:c.42197G>A (TTN) | XP_016860312.1:p.Arg14066Gln | |
| XM_024453094.1:c.63692G>A (TTN) | XP_024308862.1:p.Arg21231Gln | |
| XM_024453095.1:c.63689G>A (TTN) | XP_024308863.1:p.Arg21230Gln | |
| XM_024453096.1:c.63122G>A (TTN) | XP_024308864.1:p.Arg21041Gln | |
| XM_024453097.1:c.60464G>A (TTN) | XP_024308865.1:p.Arg20155Gln | |
| XM_024453098.1:c.60383G>A (TTN) | XP_024308866.1:p.Arg20128Gln | |
| XM_024453099.1:c.42146G>A (TTN) | XP_024308867.1:p.Arg14049Gln | |
| XM_024453100.1:c.32000G>A (TTN) | XP_024308868.1:p.Arg10667Gln |