Linked Data
ClinVar Variation Id:
515490
dbSNP Id:
rs760676361
ExAC:
2:179406199 A / C
gnomAD v2:
2-179406199-A-C
gnomAD v3:
2-178541472-A-C
gnomAD v4:
2-178541472-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541472A>C , CM000664.2:g.178541472A>C | GRCh38 |
| NC_000002.11:g.179406199A>C , CM000664.1:g.179406199A>C | GRCh37 |
| NC_000002.10:g.179114445A>C | NCBI36 |
| NG_011618.3:g.294331T>G , LRG_391:g.294331T>G | |
| NG_051363.1:g.23646A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89901T>G (TTN) | ENSP00000343764.6:p.Ile29967Met | |
| ENST00000342175.11:c.70986T>G (TTN) | ENSP00000340554.6:p.Ile23662Met | |
| ENST00000359218.10:c.70785T>G (TTN) | ENSP00000352154.5:p.Ile23595Met | |
| ENST00000342175.10:c.70986T>G (TTN) | ENSP00000340554.6:p.Ile23662Met | |
| ENST00000342992.10:c.89901T>G (TTN) | ENSP00000343764.6:p.Ile29967Met | |
| ENST00000359218.9:c.70785T>G (TTN) | ENSP00000352154.5:p.Ile23595Met | |
| ENST00000460472.6:c.70410T>G (TTN) | ENSP00000434586.1:p.Ile23470Met | |
| ENST00000589042.5:c.97605T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile32535Met | |
| ENST00000591111.5:c.92682T>G (TTN) | ENSP00000465570.1:p.Ile30894Met | |
| ENST00000615779.4:c.92682T>G (TTN) | ENSP00000483597.1:p.Ile30894Met | |
| NM_001256850.1:c.92682T>G (TTN) | NP_001243779.1:p.Ile30894Met | |
| NM_001267550.2:c.97605T>G (TTN) MANE Select | NP_001254479.2:p.Ile32535Met | |
| NM_003319.4:c.70410T>G (TTN) | NP_003310.4:p.Ile23470Met | |
| NM_133378.4:c.89901T>G (TTN) | NP_596869.4:p.Ile29967Met | |
| NM_133432.3:c.70785T>G (TTN) | NP_597676.3:p.Ile23595Met | |
| NM_133437.4:c.70986T>G (TTN) | NP_597681.4:p.Ile23662Met | |
| NR_038271.1:n.446+17836A>C (TTN-AS1) | ||
| NR_038272.1:n.1904-750A>C (TTN-AS1) | ||
| XM_011511729.1:c.96702T>G (TTN) | XP_011510031.1:p.Ile32234Met | |
| XM_011511730.1:c.70596T>G (TTN) | XP_011510032.1:p.Ile23532Met | |
| XM_011511731.1:c.70455T>G (TTN) | XP_011510033.1:p.Ile23485Met | |
| XM_017004819.1:c.96498T>G (TTN) | XP_016860308.1:p.Ile32166Met | |
| XM_017004820.1:c.91896T>G (TTN) | XP_016860309.1:p.Ile30632Met | |
| XM_017004821.1:c.91893T>G (TTN) | XP_016860310.1:p.Ile30631Met | |
| XM_017004822.1:c.88935T>G (TTN) | XP_016860311.1:p.Ile29645Met | |
| XM_017004823.1:c.70551T>G (TTN) | XP_016860312.1:p.Ile23517Met | |
| XM_024453094.1:c.92046T>G (TTN) | XP_024308862.1:p.Ile30682Met | |
| XM_024453095.1:c.92043T>G (TTN) | XP_024308863.1:p.Ile30681Met | |
| XM_024453096.1:c.91476T>G (TTN) | XP_024308864.1:p.Ile30492Met | |
| XM_024453097.1:c.88818T>G (TTN) | XP_024308865.1:p.Ile29606Met | |
| XM_024453098.1:c.88737T>G (TTN) | XP_024308866.1:p.Ile29579Met | |
| XM_024453099.1:c.70500T>G (TTN) | XP_024308867.1:p.Ile23500Met | |
| XM_024453100.1:c.60354T>G (TTN) | XP_024308868.1:p.Ile20118Met |