Linked Data
ClinVar Variation Id:
282834
dbSNP Id:
rs769223218
ExAC:
2:179430267 T / C
gnomAD v2:
2-179430267-T-C
gnomAD v3:
2-178565540-T-C
gnomAD v4:
2-178565540-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565540T>C , CM000664.2:g.178565540T>C | GRCh38 |
| NC_000002.11:g.179430267T>C , CM000664.1:g.179430267T>C | GRCh37 |
| NC_000002.10:g.179138513T>C | NCBI36 |
| NG_011618.3:g.270263A>G , LRG_391:g.270263A>G | |
| NG_051363.1:g.47714T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72888A>G (TTN) | ENSP00000343764.6:p.Pro24296= | |
| ENST00000342175.11:c.53973A>G (TTN) | ENSP00000340554.6:p.Pro17991= | |
| ENST00000359218.10:c.53772A>G (TTN) | ENSP00000352154.5:p.Pro17924= | |
| ENST00000342175.10:c.53973A>G (TTN) | ENSP00000340554.6:p.Pro17991= | |
| ENST00000342992.10:c.72888A>G (TTN) | ENSP00000343764.6:p.Pro24296= | |
| ENST00000359218.9:c.53772A>G (TTN) | ENSP00000352154.5:p.Pro17924= | |
| ENST00000460472.6:c.53397A>G (TTN) | ENSP00000434586.1:p.Pro17799= | |
| ENST00000589042.5:c.80592A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro26864= | |
| ENST00000591111.5:c.75669A>G (TTN) | ENSP00000465570.1:p.Pro25223= | |
| ENST00000615779.4:c.75669A>G (TTN) | ENSP00000483597.1:p.Pro25223= | |
| NM_001256850.1:c.75669A>G (TTN) | NP_001243779.1:p.Pro25223= | |
| NM_001267550.2:c.80592A>G (TTN) MANE Select | NP_001254479.2:p.Pro26864= | |
| NM_003319.4:c.53397A>G (TTN) | NP_003310.4:p.Pro17799= | |
| NM_133378.4:c.72888A>G (TTN) | NP_596869.4:p.Pro24296= | |
| NM_133432.3:c.53772A>G (TTN) | NP_597676.3:p.Pro17924= | |
| NM_133437.4:c.53973A>G (TTN) | NP_597681.4:p.Pro17991= | |
| NR_038271.1:n.447-5760T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-17032T>C (TTN-AS1) | ||
| XM_011511729.1:c.79689A>G (TTN) | XP_011510031.1:p.Pro26563= | |
| XM_011511730.1:c.53583A>G (TTN) | XP_011510032.1:p.Pro17861= | |
| XM_011511731.1:c.53442A>G (TTN) | XP_011510033.1:p.Pro17814= | |
| XM_017004819.1:c.79485A>G (TTN) | XP_016860308.1:p.Pro26495= | |
| XM_017004820.1:c.74883A>G (TTN) | XP_016860309.1:p.Pro24961= | |
| XM_017004821.1:c.74880A>G (TTN) | XP_016860310.1:p.Pro24960= | |
| XM_017004822.1:c.71922A>G (TTN) | XP_016860311.1:p.Pro23974= | |
| XM_017004823.1:c.53538A>G (TTN) | XP_016860312.1:p.Pro17846= | |
| XM_024453094.1:c.75033A>G (TTN) | XP_024308862.1:p.Pro25011= | |
| XM_024453095.1:c.75030A>G (TTN) | XP_024308863.1:p.Pro25010= | |
| XM_024453096.1:c.74463A>G (TTN) | XP_024308864.1:p.Pro24821= | |
| XM_024453097.1:c.71805A>G (TTN) | XP_024308865.1:p.Pro23935= | |
| XM_024453098.1:c.71724A>G (TTN) | XP_024308866.1:p.Pro23908= | |
| XM_024453099.1:c.53487A>G (TTN) | XP_024308867.1:p.Pro17829= | |
| XM_024453100.1:c.43341A>G (TTN) | XP_024308868.1:p.Pro14447= |