Linked Data
ClinVar Variation Id:
332747
dbSNP Id:
rs886055235
gnomAD v3:
2-178560749-A-G
gnomAD v4:
2-178560749-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560749A>G , CM000664.2:g.178560749A>G | GRCh38 |
| NC_000002.11:g.179425476A>G , CM000664.1:g.179425476A>G | GRCh37 |
| NC_000002.10:g.179133722A>G | NCBI36 |
| NG_011618.3:g.275054T>C , LRG_391:g.275054T>C | |
| NG_051363.1:g.42923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77679T>C (TTN) | ENSP00000343764.6:p.Asn25893= | |
| ENST00000342175.11:c.58764T>C (TTN) | ENSP00000340554.6:p.Asn19588= | |
| ENST00000359218.10:c.58563T>C (TTN) | ENSP00000352154.5:p.Asn19521= | |
| ENST00000342175.10:c.58764T>C (TTN) | ENSP00000340554.6:p.Asn19588= | |
| ENST00000342992.10:c.77679T>C (TTN) | ENSP00000343764.6:p.Asn25893= | |
| ENST00000359218.9:c.58563T>C (TTN) | ENSP00000352154.5:p.Asn19521= | |
| ENST00000460472.6:c.58188T>C (TTN) | ENSP00000434586.1:p.Asn19396= | |
| ENST00000589042.5:c.85383T>C (TTN) MANE Select | ENSP00000467141.1:p.Asn28461= | |
| ENST00000591111.5:c.80460T>C (TTN) | ENSP00000465570.1:p.Asn26820= | |
| ENST00000615779.4:c.80460T>C (TTN) | ENSP00000483597.1:p.Asn26820= | |
| NM_001256850.1:c.80460T>C (TTN) | NP_001243779.1:p.Asn26820= | |
| NM_001267550.2:c.85383T>C (TTN) MANE Select | NP_001254479.2:p.Asn28461= | |
| NM_003319.4:c.58188T>C (TTN) | NP_003310.4:p.Asn19396= | |
| NM_133378.4:c.77679T>C (TTN) | NP_596869.4:p.Asn25893= | |
| NM_133432.3:c.58563T>C (TTN) | NP_597676.3:p.Asn19521= | |
| NM_133437.4:c.58764T>C (TTN) | NP_597681.4:p.Asn19588= | |
| NR_038271.1:n.447-10551A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+18388A>G (TTN-AS1) | ||
| XM_011511729.1:c.84480T>C (TTN) | XP_011510031.1:p.Asn28160= | |
| XM_011511730.1:c.58374T>C (TTN) | XP_011510032.1:p.Asn19458= | |
| XM_011511731.1:c.58233T>C (TTN) | XP_011510033.1:p.Asn19411= | |
| XM_017004819.1:c.84276T>C (TTN) | XP_016860308.1:p.Asn28092= | |
| XM_017004820.1:c.79674T>C (TTN) | XP_016860309.1:p.Asn26558= | |
| XM_017004821.1:c.79671T>C (TTN) | XP_016860310.1:p.Asn26557= | |
| XM_017004822.1:c.76713T>C (TTN) | XP_016860311.1:p.Asn25571= | |
| XM_017004823.1:c.58329T>C (TTN) | XP_016860312.1:p.Asn19443= | |
| XM_024453094.1:c.79824T>C (TTN) | XP_024308862.1:p.Asn26608= | |
| XM_024453095.1:c.79821T>C (TTN) | XP_024308863.1:p.Asn26607= | |
| XM_024453096.1:c.79254T>C (TTN) | XP_024308864.1:p.Asn26418= | |
| XM_024453097.1:c.76596T>C (TTN) | XP_024308865.1:p.Asn25532= | |
| XM_024453098.1:c.76515T>C (TTN) | XP_024308866.1:p.Asn25505= | |
| XM_024453099.1:c.58278T>C (TTN) | XP_024308867.1:p.Asn19426= | |
| XM_024453100.1:c.48132T>C (TTN) | XP_024308868.1:p.Asn16044= |