Linked Data
ClinVar Variation Id:
502446
dbSNP Id:
rs1402147578
gnomAD v2:
2-179400524-A-G
gnomAD v4:
2-178535797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535797A>G , CM000664.2:g.178535797A>G | GRCh38 |
| NC_000002.11:g.179400524A>G , CM000664.1:g.179400524A>G | GRCh37 |
| NC_000002.10:g.179108770A>G | NCBI36 |
| NG_011618.3:g.300006T>C , LRG_391:g.300006T>C | |
| NG_051363.1:g.17971A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93114T>C (TTN) | ENSP00000343764.6:p.His31038= | |
| ENST00000342175.11:c.74199T>C (TTN) | ENSP00000340554.6:p.His24733= | |
| ENST00000359218.10:c.73998T>C (TTN) | ENSP00000352154.5:p.His24666= | |
| ENST00000342175.10:c.74199T>C (TTN) | ENSP00000340554.6:p.His24733= | |
| ENST00000342992.10:c.93114T>C (TTN) | ENSP00000343764.6:p.His31038= | |
| ENST00000359218.9:c.73998T>C (TTN) | ENSP00000352154.5:p.His24666= | |
| ENST00000460472.6:c.73623T>C (TTN) | ENSP00000434586.1:p.His24541= | |
| ENST00000589042.5:c.100818T>C (TTN) MANE Select | ENSP00000467141.1:p.His33606= | |
| ENST00000591111.5:c.95895T>C (TTN) | ENSP00000465570.1:p.His31965= | |
| ENST00000615779.4:c.95895T>C (TTN) | ENSP00000483597.1:p.His31965= | |
| NM_001256850.1:c.95895T>C (TTN) | NP_001243779.1:p.His31965= | |
| NM_001267550.2:c.100818T>C (TTN) MANE Select | NP_001254479.2:p.His33606= | |
| NM_003319.4:c.73623T>C (TTN) | NP_003310.4:p.His24541= | |
| NM_133378.4:c.93114T>C (TTN) | NP_596869.4:p.His31038= | |
| NM_133432.3:c.73998T>C (TTN) | NP_597676.3:p.His24666= | |
| NM_133437.4:c.74199T>C (TTN) | NP_597681.4:p.His24733= | |
| NR_038271.1:n.446+12161A>G (TTN-AS1) | ||
| NR_038272.1:n.285A>G (TTN-AS1) | ||
| XM_011511729.1:c.99915T>C (TTN) | XP_011510031.1:p.His33305= | |
| XM_011511730.1:c.73809T>C (TTN) | XP_011510032.1:p.His24603= | |
| XM_011511731.1:c.73668T>C (TTN) | XP_011510033.1:p.His24556= | |
| XM_017004819.1:c.99711T>C (TTN) | XP_016860308.1:p.His33237= | |
| XM_017004820.1:c.95109T>C (TTN) | XP_016860309.1:p.His31703= | |
| XM_017004821.1:c.95106T>C (TTN) | XP_016860310.1:p.His31702= | |
| XM_017004822.1:c.92148T>C (TTN) | XP_016860311.1:p.His30716= | |
| XM_017004823.1:c.73764T>C (TTN) | XP_016860312.1:p.His24588= | |
| XM_024453094.1:c.95259T>C (TTN) | XP_024308862.1:p.His31753= | |
| XM_024453095.1:c.95256T>C (TTN) | XP_024308863.1:p.His31752= | |
| XM_024453096.1:c.94689T>C (TTN) | XP_024308864.1:p.His31563= | |
| XM_024453097.1:c.92031T>C (TTN) | XP_024308865.1:p.His30677= | |
| XM_024453098.1:c.91950T>C (TTN) | XP_024308866.1:p.His30650= | |
| XM_024453099.1:c.73713T>C (TTN) | XP_024308867.1:p.His24571= | |
| XM_024453100.1:c.63567T>C (TTN) | XP_024308868.1:p.His21189= |