Linked Data
ClinVar Variation Id:
497811
dbSNP Id:
rs745857020
ExAC:
2:179424504 A / G
gnomAD v2:
2-179424504-A-G
gnomAD v3:
2-178559777-A-G
gnomAD v4:
2-178559777-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559777A>G , CM000664.2:g.178559777A>G | GRCh38 |
| NC_000002.11:g.179424504A>G , CM000664.1:g.179424504A>G | GRCh37 |
| NC_000002.10:g.179132750A>G | NCBI36 |
| NG_011618.3:g.276026T>C , LRG_391:g.276026T>C | |
| NG_051363.1:g.41951A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.78651T>C (TTN) | ENSP00000343764.6:p.Asn26217= | |
| ENST00000342175.11:c.59736T>C (TTN) | ENSP00000340554.6:p.Asn19912= | |
| ENST00000359218.10:c.59535T>C (TTN) | ENSP00000352154.5:p.Asn19845= | |
| ENST00000342175.10:c.59736T>C (TTN) | ENSP00000340554.6:p.Asn19912= | |
| ENST00000342992.10:c.78651T>C (TTN) | ENSP00000343764.6:p.Asn26217= | |
| ENST00000359218.9:c.59535T>C (TTN) | ENSP00000352154.5:p.Asn19845= | |
| ENST00000460472.6:c.59160T>C (TTN) | ENSP00000434586.1:p.Asn19720= | |
| ENST00000589042.5:c.86355T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn28785= | |
| ENST00000591111.5:c.81432T>C (TTN) | ENSP00000465570.1:p.Asn27144= | |
| ENST00000615779.4:c.81432T>C (TTN) | ENSP00000483597.1:p.Asn27144= | |
| NM_001256850.1:c.81432T>C (TTN) | NP_001243779.1:p.Asn27144= | |
| NM_001267550.2:c.86355T>C (TTN) MANE Select | NP_001254479.2:p.Asn28785= | |
| NM_003319.4:c.59160T>C (TTN) | NP_003310.4:p.Asn19720= | |
| NM_133378.4:c.78651T>C (TTN) | NP_596869.4:p.Asn26217= | |
| NM_133432.3:c.59535T>C (TTN) | NP_597676.3:p.Asn19845= | |
| NM_133437.4:c.59736T>C (TTN) | NP_597681.4:p.Asn19912= | |
| NR_038271.1:n.447-11523A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+17416A>G (TTN-AS1) | ||
| XM_011511729.1:c.85452T>C (TTN) | XP_011510031.1:p.Asn28484= | |
| XM_011511730.1:c.59346T>C (TTN) | XP_011510032.1:p.Asn19782= | |
| XM_011511731.1:c.59205T>C (TTN) | XP_011510033.1:p.Asn19735= | |
| XM_017004819.1:c.85248T>C (TTN) | XP_016860308.1:p.Asn28416= | |
| XM_017004820.1:c.80646T>C (TTN) | XP_016860309.1:p.Asn26882= | |
| XM_017004821.1:c.80643T>C (TTN) | XP_016860310.1:p.Asn26881= | |
| XM_017004822.1:c.77685T>C (TTN) | XP_016860311.1:p.Asn25895= | |
| XM_017004823.1:c.59301T>C (TTN) | XP_016860312.1:p.Asn19767= | |
| XM_024453094.1:c.80796T>C (TTN) | XP_024308862.1:p.Asn26932= | |
| XM_024453095.1:c.80793T>C (TTN) | XP_024308863.1:p.Asn26931= | |
| XM_024453096.1:c.80226T>C (TTN) | XP_024308864.1:p.Asn26742= | |
| XM_024453097.1:c.77568T>C (TTN) | XP_024308865.1:p.Asn25856= | |
| XM_024453098.1:c.77487T>C (TTN) | XP_024308866.1:p.Asn25829= | |
| XM_024453099.1:c.59250T>C (TTN) | XP_024308867.1:p.Asn19750= | |
| XM_024453100.1:c.49104T>C (TTN) | XP_024308868.1:p.Asn16368= |