Linked Data
ClinVar Variation Id:
467588
dbSNP Id:
rs748587720
ExAC:
2:179423350 G / C
gnomAD v2:
2-179423350-G-C
gnomAD v3:
2-178558623-G-C
gnomAD v4:
2-178558623-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558623G>C , CM000664.2:g.178558623G>C | GRCh38 |
| NC_000002.11:g.179423350G>C , CM000664.1:g.179423350G>C | GRCh37 |
| NC_000002.10:g.179131596G>C | NCBI36 |
| NG_011618.3:g.277180C>G , LRG_391:g.277180C>G | |
| NG_051363.1:g.40797G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79132C>G (TTN) | ENSP00000343764.6:p.Pro26378Ala | |
| ENST00000342175.11:c.60217C>G (TTN) | ENSP00000340554.6:p.Pro20073Ala | |
| ENST00000359218.10:c.60016C>G (TTN) | ENSP00000352154.5:p.Pro20006Ala | |
| ENST00000342175.10:c.60217C>G (TTN) | ENSP00000340554.6:p.Pro20073Ala | |
| ENST00000342992.10:c.79132C>G (TTN) | ENSP00000343764.6:p.Pro26378Ala | |
| ENST00000359218.9:c.60016C>G (TTN) | ENSP00000352154.5:p.Pro20006Ala | |
| ENST00000460472.6:c.59641C>G (TTN) | ENSP00000434586.1:p.Pro19881Ala | |
| ENST00000589042.5:c.86836C>G (TTN) MANE Select | ENSP00000467141.1:p.Pro28946Ala | |
| ENST00000591111.5:c.81913C>G (TTN) | ENSP00000465570.1:p.Pro27305Ala | |
| ENST00000615779.4:c.81913C>G (TTN) | ENSP00000483597.1:p.Pro27305Ala | |
| NM_001256850.1:c.81913C>G (TTN) | NP_001243779.1:p.Pro27305Ala | |
| NM_001267550.2:c.86836C>G (TTN) MANE Select | NP_001254479.2:p.Pro28946Ala | |
| NM_003319.4:c.59641C>G (TTN) | NP_003310.4:p.Pro19881Ala | |
| NM_133378.4:c.79132C>G (TTN) | NP_596869.4:p.Pro26378Ala | |
| NM_133432.3:c.60016C>G (TTN) | NP_597676.3:p.Pro20006Ala | |
| NM_133437.4:c.60217C>G (TTN) | NP_597681.4:p.Pro20073Ala | |
| NR_038271.1:n.447-12677G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+16262G>C (TTN-AS1) | ||
| XM_011511729.1:c.85933C>G (TTN) | XP_011510031.1:p.Pro28645Ala | |
| XM_011511730.1:c.59827C>G (TTN) | XP_011510032.1:p.Pro19943Ala | |
| XM_011511731.1:c.59686C>G (TTN) | XP_011510033.1:p.Pro19896Ala | |
| XM_017004819.1:c.85729C>G (TTN) | XP_016860308.1:p.Pro28577Ala | |
| XM_017004820.1:c.81127C>G (TTN) | XP_016860309.1:p.Pro27043Ala | |
| XM_017004821.1:c.81124C>G (TTN) | XP_016860310.1:p.Pro27042Ala | |
| XM_017004822.1:c.78166C>G (TTN) | XP_016860311.1:p.Pro26056Ala | |
| XM_017004823.1:c.59782C>G (TTN) | XP_016860312.1:p.Pro19928Ala | |
| XM_024453094.1:c.81277C>G (TTN) | XP_024308862.1:p.Pro27093Ala | |
| XM_024453095.1:c.81274C>G (TTN) | XP_024308863.1:p.Pro27092Ala | |
| XM_024453096.1:c.80707C>G (TTN) | XP_024308864.1:p.Pro26903Ala | |
| XM_024453097.1:c.78049C>G (TTN) | XP_024308865.1:p.Pro26017Ala | |
| XM_024453098.1:c.77968C>G (TTN) | XP_024308866.1:p.Pro25990Ala | |
| XM_024453099.1:c.59731C>G (TTN) | XP_024308867.1:p.Pro19911Ala | |
| XM_024453100.1:c.49585C>G (TTN) | XP_024308868.1:p.Pro16529Ala |