Linked Data
ClinVar Variation Id:
47311
dbSNP Id:
rs201482015
ExAC:
2:179438678 T / C
gnomAD v2:
2-179438678-T-C
gnomAD v3:
2-178573951-T-C
gnomAD v4:
2-178573951-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573951T>C , CM000664.2:g.178573951T>C | GRCh38 |
| NC_000002.11:g.179438678T>C , CM000664.1:g.179438678T>C | GRCh37 |
| NC_000002.10:g.179146924T>C | NCBI36 |
| NG_011618.3:g.261852A>G , LRG_391:g.261852A>G | |
| NG_051363.1:g.56125T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64477A>G (TTN) | ENSP00000343764.6:p.Met21493Val | |
| ENST00000342175.11:c.45562A>G (TTN) | ENSP00000340554.6:p.Met15188Val | |
| ENST00000359218.10:c.45361A>G (TTN) | ENSP00000352154.5:p.Met15121Val | |
| ENST00000342175.10:c.45562A>G (TTN) | ENSP00000340554.6:p.Met15188Val | |
| ENST00000342992.10:c.64477A>G (TTN) | ENSP00000343764.6:p.Met21493Val | |
| ENST00000359218.9:c.45361A>G (TTN) | ENSP00000352154.5:p.Met15121Val | |
| ENST00000460472.6:c.44986A>G (TTN) | ENSP00000434586.1:p.Met14996Val | |
| ENST00000589042.5:c.72181A>G (TTN) MANE Select | ENSP00000467141.1:p.Met24061Val | |
| ENST00000591111.5:c.67258A>G (TTN) | ENSP00000465570.1:p.Met22420Val | |
| ENST00000615779.4:c.67258A>G (TTN) | ENSP00000483597.1:p.Met22420Val | |
| NM_001256850.1:c.67258A>G (TTN) | NP_001243779.1:p.Met22420Val | |
| NM_001267550.2:c.72181A>G (TTN) MANE Select | NP_001254479.2:p.Met24061Val | |
| NM_003319.4:c.44986A>G (TTN) | NP_003310.4:p.Met14996Val | |
| NM_133378.4:c.64477A>G (TTN) | NP_596869.4:p.Met21493Val | |
| NM_133432.3:c.45361A>G (TTN) | NP_597676.3:p.Met15121Val | |
| NM_133437.4:c.45562A>G (TTN) | NP_597681.4:p.Met15188Val | |
| NR_038271.1:n.596+2502T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-8621T>C (TTN-AS1) | ||
| XM_011511729.1:c.71278A>G (TTN) | XP_011510031.1:p.Met23760Val | |
| XM_011511730.1:c.45172A>G (TTN) | XP_011510032.1:p.Met15058Val | |
| XM_011511731.1:c.45031A>G (TTN) | XP_011510033.1:p.Met15011Val | |
| XM_017004819.1:c.71074A>G (TTN) | XP_016860308.1:p.Met23692Val | |
| XM_017004820.1:c.66472A>G (TTN) | XP_016860309.1:p.Met22158Val | |
| XM_017004821.1:c.66469A>G (TTN) | XP_016860310.1:p.Met22157Val | |
| XM_017004822.1:c.63511A>G (TTN) | XP_016860311.1:p.Met21171Val | |
| XM_017004823.1:c.45127A>G (TTN) | XP_016860312.1:p.Met15043Val | |
| XM_024453094.1:c.66622A>G (TTN) | XP_024308862.1:p.Met22208Val | |
| XM_024453095.1:c.66619A>G (TTN) | XP_024308863.1:p.Met22207Val | |
| XM_024453096.1:c.66052A>G (TTN) | XP_024308864.1:p.Met22018Val | |
| XM_024453097.1:c.63394A>G (TTN) | XP_024308865.1:p.Met21132Val | |
| XM_024453098.1:c.63313A>G (TTN) | XP_024308866.1:p.Met21105Val | |
| XM_024453099.1:c.45076A>G (TTN) | XP_024308867.1:p.Met15026Val | |
| XM_024453100.1:c.34930A>G (TTN) | XP_024308868.1:p.Met11644Val |