Linked Data
ClinVar Variation Id:
47313
dbSNP Id:
rs200471370
ExAC:
2:179438677 A / G
gnomAD v2:
2-179438677-A-G
gnomAD v3:
2-178573950-A-G
gnomAD v4:
2-178573950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573950A>G , CM000664.2:g.178573950A>G | GRCh38 |
| NC_000002.11:g.179438677A>G , CM000664.1:g.179438677A>G | GRCh37 |
| NC_000002.10:g.179146923A>G | NCBI36 |
| NG_011618.3:g.261853T>C , LRG_391:g.261853T>C | |
| NG_051363.1:g.56124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64478T>C (TTN) | ENSP00000343764.6:p.Met21493Thr | |
| ENST00000342175.11:c.45563T>C (TTN) | ENSP00000340554.6:p.Met15188Thr | |
| ENST00000359218.10:c.45362T>C (TTN) | ENSP00000352154.5:p.Met15121Thr | |
| ENST00000342175.10:c.45563T>C (TTN) | ENSP00000340554.6:p.Met15188Thr | |
| ENST00000342992.10:c.64478T>C (TTN) | ENSP00000343764.6:p.Met21493Thr | |
| ENST00000359218.9:c.45362T>C (TTN) | ENSP00000352154.5:p.Met15121Thr | |
| ENST00000460472.6:c.44987T>C (TTN) | ENSP00000434586.1:p.Met14996Thr | |
| ENST00000589042.5:c.72182T>C (TTN) MANE Select | ENSP00000467141.1:p.Met24061Thr | |
| ENST00000591111.5:c.67259T>C (TTN) | ENSP00000465570.1:p.Met22420Thr | |
| ENST00000615779.4:c.67259T>C (TTN) | ENSP00000483597.1:p.Met22420Thr | |
| NM_001256850.1:c.67259T>C (TTN) | NP_001243779.1:p.Met22420Thr | |
| NM_001267550.2:c.72182T>C (TTN) MANE Select | NP_001254479.2:p.Met24061Thr | |
| NM_003319.4:c.44987T>C (TTN) | NP_003310.4:p.Met14996Thr | |
| NM_133378.4:c.64478T>C (TTN) | NP_596869.4:p.Met21493Thr | |
| NM_133432.3:c.45362T>C (TTN) | NP_597676.3:p.Met15121Thr | |
| NM_133437.4:c.45563T>C (TTN) | NP_597681.4:p.Met15188Thr | |
| NR_038271.1:n.596+2501A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8622A>G (TTN-AS1) | ||
| XM_011511729.1:c.71279T>C (TTN) | XP_011510031.1:p.Met23760Thr | |
| XM_011511730.1:c.45173T>C (TTN) | XP_011510032.1:p.Met15058Thr | |
| XM_011511731.1:c.45032T>C (TTN) | XP_011510033.1:p.Met15011Thr | |
| XM_017004819.1:c.71075T>C (TTN) | XP_016860308.1:p.Met23692Thr | |
| XM_017004820.1:c.66473T>C (TTN) | XP_016860309.1:p.Met22158Thr | |
| XM_017004821.1:c.66470T>C (TTN) | XP_016860310.1:p.Met22157Thr | |
| XM_017004822.1:c.63512T>C (TTN) | XP_016860311.1:p.Met21171Thr | |
| XM_017004823.1:c.45128T>C (TTN) | XP_016860312.1:p.Met15043Thr | |
| XM_024453094.1:c.66623T>C (TTN) | XP_024308862.1:p.Met22208Thr | |
| XM_024453095.1:c.66620T>C (TTN) | XP_024308863.1:p.Met22207Thr | |
| XM_024453096.1:c.66053T>C (TTN) | XP_024308864.1:p.Met22018Thr | |
| XM_024453097.1:c.63395T>C (TTN) | XP_024308865.1:p.Met21132Thr | |
| XM_024453098.1:c.63314T>C (TTN) | XP_024308866.1:p.Met21105Thr | |
| XM_024453099.1:c.45077T>C (TTN) | XP_024308867.1:p.Met15026Thr | |
| XM_024453100.1:c.34931T>C (TTN) | XP_024308868.1:p.Met11644Thr |