Linked Data
ClinVar Variation Id:
467271
dbSNP Id:
rs373624715
ExAC:
2:179467310 C / T
gnomAD v2:
2-179467310-C-T
gnomAD v3:
2-178602583-C-T
gnomAD v4:
2-178602583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602583C>T , CM000664.2:g.178602583C>T | GRCh38 |
| NC_000002.11:g.179467310C>T , CM000664.1:g.179467310C>T | GRCh37 |
| NC_000002.10:g.179175555C>T | NCBI36 |
| NG_011618.3:g.233220G>A , LRG_391:g.233220G>A | |
| NG_051363.1:g.84757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47115G>A (TTN) | ENSP00000343764.6:p.Pro15705= | |
| ENST00000342175.11:c.28200G>A (TTN) | ENSP00000340554.6:p.Pro9400= | |
| ENST00000359218.10:c.27999G>A (TTN) | ENSP00000352154.5:p.Pro9333= | |
| ENST00000342175.10:c.28200G>A (TTN) | ENSP00000340554.6:p.Pro9400= | |
| ENST00000342992.10:c.47115G>A (TTN) | ENSP00000343764.6:p.Pro15705= | |
| ENST00000359218.9:c.27999G>A (TTN) | ENSP00000352154.5:p.Pro9333= | |
| ENST00000460472.6:c.27624G>A (TTN) | ENSP00000434586.1:p.Pro9208= | |
| ENST00000589042.5:c.54819G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro18273= | |
| ENST00000591111.5:c.49896G>A (TTN) | ENSP00000465570.1:p.Pro16632= | |
| ENST00000615779.4:c.49896G>A (TTN) | ENSP00000483597.1:p.Pro16632= | |
| NM_001256850.1:c.49896G>A (TTN) | NP_001243779.1:p.Pro16632= | |
| NM_001267550.2:c.54819G>A (TTN) MANE Select | NP_001254479.2:p.Pro18273= | |
| NM_003319.4:c.27624G>A (TTN) | NP_003310.4:p.Pro9208= | |
| NM_133378.4:c.47115G>A (TTN) | NP_596869.4:p.Pro15705= | |
| NM_133432.3:c.27999G>A (TTN) | NP_597676.3:p.Pro9333= | |
| NM_133437.4:c.28200G>A (TTN) | NP_597681.4:p.Pro9400= | |
| NR_038271.1:n.682+4902C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+1916C>T (TTN-AS1) | ||
| XM_011511729.1:c.53916G>A (TTN) | XP_011510031.1:p.Pro17972= | |
| XM_011511730.1:c.27810G>A (TTN) | XP_011510032.1:p.Pro9270= | |
| XM_011511731.1:c.27669G>A (TTN) | XP_011510033.1:p.Pro9223= | |
| XM_017004819.1:c.53712G>A (TTN) | XP_016860308.1:p.Pro17904= | |
| XM_017004820.1:c.49110G>A (TTN) | XP_016860309.1:p.Pro16370= | |
| XM_017004821.1:c.49107G>A (TTN) | XP_016860310.1:p.Pro16369= | |
| XM_017004822.1:c.46149G>A (TTN) | XP_016860311.1:p.Pro15383= | |
| XM_017004823.1:c.27765G>A (TTN) | XP_016860312.1:p.Pro9255= | |
| XM_024453094.1:c.49260G>A (TTN) | XP_024308862.1:p.Pro16420= | |
| XM_024453095.1:c.49257G>A (TTN) | XP_024308863.1:p.Pro16419= | |
| XM_024453096.1:c.48690G>A (TTN) | XP_024308864.1:p.Pro16230= | |
| XM_024453097.1:c.46032G>A (TTN) | XP_024308865.1:p.Pro15344= | |
| XM_024453098.1:c.45951G>A (TTN) | XP_024308866.1:p.Pro15317= | |
| XM_024453099.1:c.27714G>A (TTN) | XP_024308867.1:p.Pro9238= | |
| XM_024453100.1:c.17568G>A (TTN) | XP_024308868.1:p.Pro5856= |