Linked Data
ClinVar Variation Id:
378829
dbSNP Id:
rs373301015
ExAC:
2:179411562 C / T
gnomAD v2:
2-179411562-C-T
gnomAD v3:
2-178546835-C-T
gnomAD v4:
2-178546835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546835C>T , CM000664.2:g.178546835C>T | GRCh38 |
| NC_000002.11:g.179411562C>T , CM000664.1:g.179411562C>T | GRCh37 |
| NC_000002.10:g.179119808C>T | NCBI36 |
| NG_011618.3:g.288968G>A , LRG_391:g.288968G>A | |
| NG_051363.1:g.29009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86889G>A (TTN) | ENSP00000343764.6:p.Ala28963= | |
| ENST00000342175.11:c.67974G>A (TTN) | ENSP00000340554.6:p.Ala22658= | |
| ENST00000359218.10:c.67773G>A (TTN) | ENSP00000352154.5:p.Ala22591= | |
| ENST00000342175.10:c.67974G>A (TTN) | ENSP00000340554.6:p.Ala22658= | |
| ENST00000342992.10:c.86889G>A (TTN) | ENSP00000343764.6:p.Ala28963= | |
| ENST00000359218.9:c.67773G>A (TTN) | ENSP00000352154.5:p.Ala22591= | |
| ENST00000460472.6:c.67398G>A (TTN) | ENSP00000434586.1:p.Ala22466= | |
| ENST00000589042.5:c.94593G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala31531= | |
| ENST00000591111.5:c.89670G>A (TTN) | ENSP00000465570.1:p.Ala29890= | |
| ENST00000615779.4:c.89670G>A (TTN) | ENSP00000483597.1:p.Ala29890= | |
| NM_001256850.1:c.89670G>A (TTN) | NP_001243779.1:p.Ala29890= | |
| NM_001267550.2:c.94593G>A (TTN) MANE Select | NP_001254479.2:p.Ala31531= | |
| NM_003319.4:c.67398G>A (TTN) | NP_003310.4:p.Ala22466= | |
| NM_133378.4:c.86889G>A (TTN) | NP_596869.4:p.Ala28963= | |
| NM_133432.3:c.67773G>A (TTN) | NP_597676.3:p.Ala22591= | |
| NM_133437.4:c.67974G>A (TTN) | NP_597681.4:p.Ala22658= | |
| NR_038271.1:n.446+23199C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4474C>T (TTN-AS1) | ||
| XM_011511729.1:c.93690G>A (TTN) | XP_011510031.1:p.Ala31230= | |
| XM_011511730.1:c.67584G>A (TTN) | XP_011510032.1:p.Ala22528= | |
| XM_011511731.1:c.67443G>A (TTN) | XP_011510033.1:p.Ala22481= | |
| XM_017004819.1:c.93486G>A (TTN) | XP_016860308.1:p.Ala31162= | |
| XM_017004820.1:c.88884G>A (TTN) | XP_016860309.1:p.Ala29628= | |
| XM_017004821.1:c.88881G>A (TTN) | XP_016860310.1:p.Ala29627= | |
| XM_017004822.1:c.85923G>A (TTN) | XP_016860311.1:p.Ala28641= | |
| XM_017004823.1:c.67539G>A (TTN) | XP_016860312.1:p.Ala22513= | |
| XM_024453094.1:c.89034G>A (TTN) | XP_024308862.1:p.Ala29678= | |
| XM_024453095.1:c.89031G>A (TTN) | XP_024308863.1:p.Ala29677= | |
| XM_024453096.1:c.88464G>A (TTN) | XP_024308864.1:p.Ala29488= | |
| XM_024453097.1:c.85806G>A (TTN) | XP_024308865.1:p.Ala28602= | |
| XM_024453098.1:c.85725G>A (TTN) | XP_024308866.1:p.Ala28575= | |
| XM_024453099.1:c.67488G>A (TTN) | XP_024308867.1:p.Ala22496= | |
| XM_024453100.1:c.57342G>A (TTN) | XP_024308868.1:p.Ala19114= |