Linked Data
ClinVar Variation Id:
862399
dbSNP Id:
rs1220665174
gnomAD v2:
2-179395297-G-T
gnomAD v3:
2-178530570-G-T
gnomAD v4:
2-178530570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530570G>T , CM000664.2:g.178530570G>T | GRCh38 |
| NC_000002.11:g.179395297G>T , CM000664.1:g.179395297G>T | GRCh37 |
| NC_000002.10:g.179103543G>T | NCBI36 |
| NG_011618.3:g.305233C>A , LRG_391:g.305233C>A | |
| NG_051363.1:g.12744G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98341C>A (TTN) | ENSP00000343764.6:p.Leu32781Ile | |
| ENST00000342175.11:c.79426C>A (TTN) | ENSP00000340554.6:p.Leu26476Ile | |
| ENST00000359218.10:c.79225C>A (TTN) | ENSP00000352154.5:p.Leu26409Ile | |
| ENST00000342175.10:c.79426C>A (TTN) | ENSP00000340554.6:p.Leu26476Ile | |
| ENST00000342992.10:c.98341C>A (TTN) | ENSP00000343764.6:p.Leu32781Ile | |
| ENST00000359218.9:c.79225C>A (TTN) | ENSP00000352154.5:p.Leu26409Ile | |
| ENST00000460472.6:c.78850C>A (TTN) | ENSP00000434586.1:p.Leu26284Ile | |
| ENST00000589042.5:c.106045C>A (TTN) MANE Select | ENSP00000467141.1:p.Leu35349Ile | |
| ENST00000591111.5:c.101122C>A (TTN) | ENSP00000465570.1:p.Leu33708Ile | |
| ENST00000615779.4:c.101122C>A (TTN) | ENSP00000483597.1:p.Leu33708Ile | |
| NM_001256850.1:c.101122C>A (TTN) | NP_001243779.1:p.Leu33708Ile | |
| NM_001267550.2:c.106045C>A (TTN) MANE Select | NP_001254479.2:p.Leu35349Ile | |
| NM_003319.4:c.78850C>A (TTN) | NP_003310.4:p.Leu26284Ile | |
| NM_133378.4:c.98341C>A (TTN) | NP_596869.4:p.Leu32781Ile | |
| NM_133432.3:c.79225C>A (TTN) | NP_597676.3:p.Leu26409Ile | |
| NM_133437.4:c.79426C>A (TTN) | NP_597681.4:p.Leu26476Ile | |
| NR_038271.1:n.446+6934G>T (TTN-AS1) | ||
| NR_038272.1:n.220-5162G>T (TTN-AS1) | ||
| XM_011511729.1:c.105142C>A (TTN) | XP_011510031.1:p.Leu35048Ile | |
| XM_011511730.1:c.79036C>A (TTN) | XP_011510032.1:p.Leu26346Ile | |
| XM_011511731.1:c.78895C>A (TTN) | XP_011510033.1:p.Leu26299Ile | |
| XM_017004819.1:c.104938C>A (TTN) | XP_016860308.1:p.Leu34980Ile | |
| XM_017004820.1:c.100336C>A (TTN) | XP_016860309.1:p.Leu33446Ile | |
| XM_017004821.1:c.100333C>A (TTN) | XP_016860310.1:p.Leu33445Ile | |
| XM_017004822.1:c.97375C>A (TTN) | XP_016860311.1:p.Leu32459Ile | |
| XM_017004823.1:c.78991C>A (TTN) | XP_016860312.1:p.Leu26331Ile | |
| XM_024453094.1:c.100486C>A (TTN) | XP_024308862.1:p.Leu33496Ile | |
| XM_024453095.1:c.100483C>A (TTN) | XP_024308863.1:p.Leu33495Ile | |
| XM_024453096.1:c.99916C>A (TTN) | XP_024308864.1:p.Leu33306Ile | |
| XM_024453097.1:c.97258C>A (TTN) | XP_024308865.1:p.Leu32420Ile | |
| XM_024453098.1:c.97177C>A (TTN) | XP_024308866.1:p.Leu32393Ile | |
| XM_024453099.1:c.78940C>A (TTN) | XP_024308867.1:p.Leu26314Ile | |
| XM_024453100.1:c.68794C>A (TTN) | XP_024308868.1:p.Leu22932Ile |