Linked Data
dbSNP Id:
rs774041008
ExAC:
2:179396996 A / G
gnomAD v2:
2-179396996-A-G
gnomAD v4:
2-178532269-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532269A>G , CM000664.2:g.178532269A>G | GRCh38 |
| NC_000002.11:g.179396996A>G , CM000664.1:g.179396996A>G | GRCh37 |
| NC_000002.10:g.179105242A>G | NCBI36 |
| NG_011618.3:g.303534T>C , LRG_391:g.303534T>C | |
| NG_051363.1:g.14443A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96642T>C (TTN) | ENSP00000343764.6:p.His32214= | |
| ENST00000342175.11:c.77727T>C (TTN) | ENSP00000340554.6:p.His25909= | |
| ENST00000359218.10:c.77526T>C (TTN) | ENSP00000352154.5:p.His25842= | |
| ENST00000342175.10:c.77727T>C (TTN) | ENSP00000340554.6:p.His25909= | |
| ENST00000342992.10:c.96642T>C (TTN) | ENSP00000343764.6:p.His32214= | |
| ENST00000359218.9:c.77526T>C (TTN) | ENSP00000352154.5:p.His25842= | |
| ENST00000460472.6:c.77151T>C (TTN) | ENSP00000434586.1:p.His25717= | |
| ENST00000589042.5:c.104346T>C (TTN) MANE Select | ENSP00000467141.1:p.His34782= | |
| ENST00000591111.5:c.99423T>C (TTN) | ENSP00000465570.1:p.His33141= | |
| ENST00000615779.4:c.99423T>C (TTN) | ENSP00000483597.1:p.His33141= | |
| NM_001256850.1:c.99423T>C (TTN) | NP_001243779.1:p.His33141= | |
| NM_001267550.2:c.104346T>C (TTN) MANE Select | NP_001254479.2:p.His34782= | |
| NM_003319.4:c.77151T>C (TTN) | NP_003310.4:p.His25717= | |
| NM_133378.4:c.96642T>C (TTN) | NP_596869.4:p.His32214= | |
| NM_133432.3:c.77526T>C (TTN) | NP_597676.3:p.His25842= | |
| NM_133437.4:c.77727T>C (TTN) | NP_597681.4:p.His25909= | |
| NR_038271.1:n.446+8633A>G (TTN-AS1) | ||
| NR_038272.1:n.220-3463A>G (TTN-AS1) | ||
| XM_011511729.1:c.103443T>C (TTN) | XP_011510031.1:p.His34481= | |
| XM_011511730.1:c.77337T>C (TTN) | XP_011510032.1:p.His25779= | |
| XM_011511731.1:c.77196T>C (TTN) | XP_011510033.1:p.His25732= | |
| XM_017004819.1:c.103239T>C (TTN) | XP_016860308.1:p.His34413= | |
| XM_017004820.1:c.98637T>C (TTN) | XP_016860309.1:p.His32879= | |
| XM_017004821.1:c.98634T>C (TTN) | XP_016860310.1:p.His32878= | |
| XM_017004822.1:c.95676T>C (TTN) | XP_016860311.1:p.His31892= | |
| XM_017004823.1:c.77292T>C (TTN) | XP_016860312.1:p.His25764= | |
| XM_024453094.1:c.98787T>C (TTN) | XP_024308862.1:p.His32929= | |
| XM_024453095.1:c.98784T>C (TTN) | XP_024308863.1:p.His32928= | |
| XM_024453096.1:c.98217T>C (TTN) | XP_024308864.1:p.His32739= | |
| XM_024453097.1:c.95559T>C (TTN) | XP_024308865.1:p.His31853= | |
| XM_024453098.1:c.95478T>C (TTN) | XP_024308866.1:p.His31826= | |
| XM_024453099.1:c.77241T>C (TTN) | XP_024308867.1:p.His25747= | |
| XM_024453100.1:c.67095T>C (TTN) | XP_024308868.1:p.His22365= |