Linked Data
ClinVar Variation Id:
501291
dbSNP Id:
rs1015506783
gnomAD v3:
2-178565291-A-G
gnomAD v4:
2-178565291-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565291A>G , CM000664.2:g.178565291A>G | GRCh38 |
| NC_000002.11:g.179430018A>G , CM000664.1:g.179430018A>G | GRCh37 |
| NC_000002.10:g.179138264A>G | NCBI36 |
| NG_011618.3:g.270512T>C , LRG_391:g.270512T>C | |
| NG_051363.1:g.47465A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73137T>C (TTN) | ENSP00000343764.6:p.Phe24379= | |
| ENST00000342175.11:c.54222T>C (TTN) | ENSP00000340554.6:p.Phe18074= | |
| ENST00000359218.10:c.54021T>C (TTN) | ENSP00000352154.5:p.Phe18007= | |
| ENST00000342175.10:c.54222T>C (TTN) | ENSP00000340554.6:p.Phe18074= | |
| ENST00000342992.10:c.73137T>C (TTN) | ENSP00000343764.6:p.Phe24379= | |
| ENST00000359218.9:c.54021T>C (TTN) | ENSP00000352154.5:p.Phe18007= | |
| ENST00000460472.6:c.53646T>C (TTN) | ENSP00000434586.1:p.Phe17882= | |
| ENST00000589042.5:c.80841T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe26947= | |
| ENST00000591111.5:c.75918T>C (TTN) | ENSP00000465570.1:p.Phe25306= | |
| ENST00000615779.4:c.75918T>C (TTN) | ENSP00000483597.1:p.Phe25306= | |
| NM_001256850.1:c.75918T>C (TTN) | NP_001243779.1:p.Phe25306= | |
| NM_001267550.2:c.80841T>C (TTN) MANE Select | NP_001254479.2:p.Phe26947= | |
| NM_003319.4:c.53646T>C (TTN) | NP_003310.4:p.Phe17882= | |
| NM_133378.4:c.73137T>C (TTN) | NP_596869.4:p.Phe24379= | |
| NM_133432.3:c.54021T>C (TTN) | NP_597676.3:p.Phe18007= | |
| NM_133437.4:c.54222T>C (TTN) | NP_597681.4:p.Phe18074= | |
| NR_038271.1:n.447-6009A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17281A>G (TTN-AS1) | ||
| XM_011511729.1:c.79938T>C (TTN) | XP_011510031.1:p.Phe26646= | |
| XM_011511730.1:c.53832T>C (TTN) | XP_011510032.1:p.Phe17944= | |
| XM_011511731.1:c.53691T>C (TTN) | XP_011510033.1:p.Phe17897= | |
| XM_017004819.1:c.79734T>C (TTN) | XP_016860308.1:p.Phe26578= | |
| XM_017004820.1:c.75132T>C (TTN) | XP_016860309.1:p.Phe25044= | |
| XM_017004821.1:c.75129T>C (TTN) | XP_016860310.1:p.Phe25043= | |
| XM_017004822.1:c.72171T>C (TTN) | XP_016860311.1:p.Phe24057= | |
| XM_017004823.1:c.53787T>C (TTN) | XP_016860312.1:p.Phe17929= | |
| XM_024453094.1:c.75282T>C (TTN) | XP_024308862.1:p.Phe25094= | |
| XM_024453095.1:c.75279T>C (TTN) | XP_024308863.1:p.Phe25093= | |
| XM_024453096.1:c.74712T>C (TTN) | XP_024308864.1:p.Phe24904= | |
| XM_024453097.1:c.72054T>C (TTN) | XP_024308865.1:p.Phe24018= | |
| XM_024453098.1:c.71973T>C (TTN) | XP_024308866.1:p.Phe23991= | |
| XM_024453099.1:c.53736T>C (TTN) | XP_024308867.1:p.Phe17912= | |
| XM_024453100.1:c.43590T>C (TTN) | XP_024308868.1:p.Phe14530= |