Linked Data
ClinVar Variation Id:
452618
dbSNP Id:
rs776899398
ExAC:
2:179466793 A / C
gnomAD v2:
2-179466793-A-C
gnomAD v3:
2-178602066-A-C
gnomAD v4:
2-178602066-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602066A>C , CM000664.2:g.178602066A>C | GRCh38 |
| NC_000002.11:g.179466793A>C , CM000664.1:g.179466793A>C | GRCh37 |
| NC_000002.10:g.179175038A>C | NCBI36 |
| NG_011618.3:g.233737T>G , LRG_391:g.233737T>G | |
| NG_051363.1:g.84240A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47501T>G (TTN) | ENSP00000343764.6:p.Ile15834Ser | |
| ENST00000342175.11:c.28586T>G (TTN) | ENSP00000340554.6:p.Ile9529Ser | |
| ENST00000359218.10:c.28385T>G (TTN) | ENSP00000352154.5:p.Ile9462Ser | |
| ENST00000342175.10:c.28586T>G (TTN) | ENSP00000340554.6:p.Ile9529Ser | |
| ENST00000342992.10:c.47501T>G (TTN) | ENSP00000343764.6:p.Ile15834Ser | |
| ENST00000359218.9:c.28385T>G (TTN) | ENSP00000352154.5:p.Ile9462Ser | |
| ENST00000460472.6:c.28010T>G (TTN) | ENSP00000434586.1:p.Ile9337Ser | |
| ENST00000589042.5:c.55205T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile18402Ser | |
| ENST00000591111.5:c.50282T>G (TTN) | ENSP00000465570.1:p.Ile16761Ser | |
| ENST00000615779.4:c.50282T>G (TTN) | ENSP00000483597.1:p.Ile16761Ser | |
| NM_001256850.1:c.50282T>G (TTN) | NP_001243779.1:p.Ile16761Ser | |
| NM_001267550.2:c.55205T>G (TTN) MANE Select | NP_001254479.2:p.Ile18402Ser | |
| NM_003319.4:c.28010T>G (TTN) | NP_003310.4:p.Ile9337Ser | |
| NM_133378.4:c.47501T>G (TTN) | NP_596869.4:p.Ile15834Ser | |
| NM_133432.3:c.28385T>G (TTN) | NP_597676.3:p.Ile9462Ser | |
| NM_133437.4:c.28586T>G (TTN) | NP_597681.4:p.Ile9529Ser | |
| NR_038271.1:n.682+4385A>C (TTN-AS1) | ||
| NR_038272.1:n.3917+1399A>C (TTN-AS1) | ||
| XM_011511729.1:c.54302T>G (TTN) | XP_011510031.1:p.Ile18101Ser | |
| XM_011511730.1:c.28196T>G (TTN) | XP_011510032.1:p.Ile9399Ser | |
| XM_011511731.1:c.28055T>G (TTN) | XP_011510033.1:p.Ile9352Ser | |
| XM_017004819.1:c.54098T>G (TTN) | XP_016860308.1:p.Ile18033Ser | |
| XM_017004820.1:c.49496T>G (TTN) | XP_016860309.1:p.Ile16499Ser | |
| XM_017004821.1:c.49493T>G (TTN) | XP_016860310.1:p.Ile16498Ser | |
| XM_017004822.1:c.46535T>G (TTN) | XP_016860311.1:p.Ile15512Ser | |
| XM_017004823.1:c.28151T>G (TTN) | XP_016860312.1:p.Ile9384Ser | |
| XM_024453094.1:c.49646T>G (TTN) | XP_024308862.1:p.Ile16549Ser | |
| XM_024453095.1:c.49643T>G (TTN) | XP_024308863.1:p.Ile16548Ser | |
| XM_024453096.1:c.49076T>G (TTN) | XP_024308864.1:p.Ile16359Ser | |
| XM_024453097.1:c.46418T>G (TTN) | XP_024308865.1:p.Ile15473Ser | |
| XM_024453098.1:c.46337T>G (TTN) | XP_024308866.1:p.Ile15446Ser | |
| XM_024453099.1:c.28100T>G (TTN) | XP_024308867.1:p.Ile9367Ser | |
| XM_024453100.1:c.17954T>G (TTN) | XP_024308868.1:p.Ile5985Ser |