Linked Data
ClinVar Variation Id:
203005
ClinVar RCV Id:
RCV000217908
RCV000468035
RCV000728623
RCV001132940
RCV001132938
RCV001132939
RCV001131992
RCV001132941
RCV004537560
dbSNP Id:
rs377016580
ExAC:
2:179411602 A / G
gnomAD v2:
2-179411602-A-G
gnomAD v3:
2-178546875-A-G
gnomAD v4:
2-178546875-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546875A>G , CM000664.2:g.178546875A>G | GRCh38 |
| NC_000002.11:g.179411602A>G , CM000664.1:g.179411602A>G | GRCh37 |
| NC_000002.10:g.179119848A>G | NCBI36 |
| NG_011618.3:g.288928T>C , LRG_391:g.288928T>C | |
| NG_051363.1:g.29049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86849T>C (TTN) | ENSP00000343764.6:p.Val28950Ala | |
| ENST00000342175.11:c.67934T>C (TTN) | ENSP00000340554.6:p.Val22645Ala | |
| ENST00000359218.10:c.67733T>C (TTN) | ENSP00000352154.5:p.Val22578Ala | |
| ENST00000342175.10:c.67934T>C (TTN) | ENSP00000340554.6:p.Val22645Ala | |
| ENST00000342992.10:c.86849T>C (TTN) | ENSP00000343764.6:p.Val28950Ala | |
| ENST00000359218.9:c.67733T>C (TTN) | ENSP00000352154.5:p.Val22578Ala | |
| ENST00000460472.6:c.67358T>C (TTN) | ENSP00000434586.1:p.Val22453Ala | |
| ENST00000589042.5:c.94553T>C (TTN) MANE Select | ENSP00000467141.1:p.Val31518Ala | |
| ENST00000591111.5:c.89630T>C (TTN) | ENSP00000465570.1:p.Val29877Ala | |
| ENST00000615779.4:c.89630T>C (TTN) | ENSP00000483597.1:p.Val29877Ala | |
| NM_001256850.1:c.89630T>C (TTN) | NP_001243779.1:p.Val29877Ala | |
| NM_001267550.2:c.94553T>C (TTN) MANE Select | NP_001254479.2:p.Val31518Ala | |
| NM_003319.4:c.67358T>C (TTN) | NP_003310.4:p.Val22453Ala | |
| NM_133378.4:c.86849T>C (TTN) | NP_596869.4:p.Val28950Ala | |
| NM_133432.3:c.67733T>C (TTN) | NP_597676.3:p.Val22578Ala | |
| NM_133437.4:c.67934T>C (TTN) | NP_597681.4:p.Val22645Ala | |
| NR_038271.1:n.446+23239A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+4514A>G (TTN-AS1) | ||
| XM_011511729.1:c.93650T>C (TTN) | XP_011510031.1:p.Val31217Ala | |
| XM_011511730.1:c.67544T>C (TTN) | XP_011510032.1:p.Val22515Ala | |
| XM_011511731.1:c.67403T>C (TTN) | XP_011510033.1:p.Val22468Ala | |
| XM_017004819.1:c.93446T>C (TTN) | XP_016860308.1:p.Val31149Ala | |
| XM_017004820.1:c.88844T>C (TTN) | XP_016860309.1:p.Val29615Ala | |
| XM_017004821.1:c.88841T>C (TTN) | XP_016860310.1:p.Val29614Ala | |
| XM_017004822.1:c.85883T>C (TTN) | XP_016860311.1:p.Val28628Ala | |
| XM_017004823.1:c.67499T>C (TTN) | XP_016860312.1:p.Val22500Ala | |
| XM_024453094.1:c.88994T>C (TTN) | XP_024308862.1:p.Val29665Ala | |
| XM_024453095.1:c.88991T>C (TTN) | XP_024308863.1:p.Val29664Ala | |
| XM_024453096.1:c.88424T>C (TTN) | XP_024308864.1:p.Val29475Ala | |
| XM_024453097.1:c.85766T>C (TTN) | XP_024308865.1:p.Val28589Ala | |
| XM_024453098.1:c.85685T>C (TTN) | XP_024308866.1:p.Val28562Ala | |
| XM_024453099.1:c.67448T>C (TTN) | XP_024308867.1:p.Val22483Ala | |
| XM_024453100.1:c.57302T>C (TTN) | XP_024308868.1:p.Val19101Ala |