Linked Data
ClinVar Variation Id:
467506
ClinVar RCV Id:
RCV000548592
RCV000768919
RCV001130054
RCV001130055
RCV001130056
RCV001130058
RCV001130057
RCV001555582
dbSNP Id:
rs370137092
ExAC:
2:179433110 A / G
gnomAD v2:
2-179433110-A-G
gnomAD v3:
2-178568383-A-G
gnomAD v4:
2-178568383-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568383A>G , CM000664.2:g.178568383A>G | GRCh38 |
| NC_000002.11:g.179433110A>G , CM000664.1:g.179433110A>G | GRCh37 |
| NC_000002.10:g.179141356A>G | NCBI36 |
| NG_011618.3:g.267420T>C , LRG_391:g.267420T>C | |
| NG_051363.1:g.50557A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70045T>C (TTN) | ENSP00000343764.6:p.Tyr23349His | |
| ENST00000342175.11:c.51130T>C (TTN) | ENSP00000340554.6:p.Tyr17044His | |
| ENST00000359218.10:c.50929T>C (TTN) | ENSP00000352154.5:p.Tyr16977His | |
| ENST00000342175.10:c.51130T>C (TTN) | ENSP00000340554.6:p.Tyr17044His | |
| ENST00000342992.10:c.70045T>C (TTN) | ENSP00000343764.6:p.Tyr23349His | |
| ENST00000359218.9:c.50929T>C (TTN) | ENSP00000352154.5:p.Tyr16977His | |
| ENST00000460472.6:c.50554T>C (TTN) | ENSP00000434586.1:p.Tyr16852His | |
| ENST00000589042.5:c.77749T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr25917His | |
| ENST00000591111.5:c.72826T>C (TTN) | ENSP00000465570.1:p.Tyr24276His | |
| ENST00000615779.4:c.72826T>C (TTN) | ENSP00000483597.1:p.Tyr24276His | |
| NM_001256850.1:c.72826T>C (TTN) | NP_001243779.1:p.Tyr24276His | |
| NM_001267550.2:c.77749T>C (TTN) MANE Select | NP_001254479.2:p.Tyr25917His | |
| NM_003319.4:c.50554T>C (TTN) | NP_003310.4:p.Tyr16852His | |
| NM_133378.4:c.70045T>C (TTN) | NP_596869.4:p.Tyr23349His | |
| NM_133432.3:c.50929T>C (TTN) | NP_597676.3:p.Tyr16977His | |
| NM_133437.4:c.51130T>C (TTN) | NP_597681.4:p.Tyr17044His | |
| NR_038271.1:n.447-2917A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14189A>G (TTN-AS1) | ||
| XM_011511729.1:c.76846T>C (TTN) | XP_011510031.1:p.Tyr25616His | |
| XM_011511730.1:c.50740T>C (TTN) | XP_011510032.1:p.Tyr16914His | |
| XM_011511731.1:c.50599T>C (TTN) | XP_011510033.1:p.Tyr16867His | |
| XM_017004819.1:c.76642T>C (TTN) | XP_016860308.1:p.Tyr25548His | |
| XM_017004820.1:c.72040T>C (TTN) | XP_016860309.1:p.Tyr24014His | |
| XM_017004821.1:c.72037T>C (TTN) | XP_016860310.1:p.Tyr24013His | |
| XM_017004822.1:c.69079T>C (TTN) | XP_016860311.1:p.Tyr23027His | |
| XM_017004823.1:c.50695T>C (TTN) | XP_016860312.1:p.Tyr16899His | |
| XM_024453094.1:c.72190T>C (TTN) | XP_024308862.1:p.Tyr24064His | |
| XM_024453095.1:c.72187T>C (TTN) | XP_024308863.1:p.Tyr24063His | |
| XM_024453096.1:c.71620T>C (TTN) | XP_024308864.1:p.Tyr23874His | |
| XM_024453097.1:c.68962T>C (TTN) | XP_024308865.1:p.Tyr22988His | |
| XM_024453098.1:c.68881T>C (TTN) | XP_024308866.1:p.Tyr22961His | |
| XM_024453099.1:c.50644T>C (TTN) | XP_024308867.1:p.Tyr16882His | |
| XM_024453100.1:c.40498T>C (TTN) | XP_024308868.1:p.Tyr13500His |