Linked Data
ClinVar Variation Id:
47060
dbSNP Id:
rs397517607
ExAC:
2:179473594 T / C
gnomAD v2:
2-179473594-T-C
gnomAD v3:
2-178608867-T-C
gnomAD v4:
2-178608867-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608867T>C , CM000664.2:g.178608867T>C | GRCh38 |
| NC_000002.11:g.179473594T>C , CM000664.1:g.179473594T>C | GRCh37 |
| NC_000002.10:g.179181839T>C | NCBI36 |
| NG_011618.3:g.226936A>G , LRG_391:g.226936A>G | |
| NG_051363.1:g.91041T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44440A>G (TTN) | ENSP00000343764.6:p.Arg14814Gly | |
| ENST00000342175.11:c.25525A>G (TTN) | ENSP00000340554.6:p.Arg8509Gly | |
| ENST00000359218.10:c.25324A>G (TTN) | ENSP00000352154.5:p.Arg8442Gly | |
| ENST00000342175.10:c.25525A>G (TTN) | ENSP00000340554.6:p.Arg8509Gly | |
| ENST00000342992.10:c.44440A>G (TTN) | ENSP00000343764.6:p.Arg14814Gly | |
| ENST00000359218.9:c.25324A>G (TTN) | ENSP00000352154.5:p.Arg8442Gly | |
| ENST00000460472.6:c.24949A>G (TTN) | ENSP00000434586.1:p.Arg8317Gly | |
| ENST00000589042.5:c.52144A>G (TTN) MANE Select | ENSP00000467141.1:p.Arg17382Gly | |
| ENST00000591111.5:c.47221A>G (TTN) | ENSP00000465570.1:p.Arg15741Gly | |
| ENST00000615779.4:c.47221A>G (TTN) | ENSP00000483597.1:p.Arg15741Gly | |
| NM_001256850.1:c.47221A>G (TTN) | NP_001243779.1:p.Arg15741Gly | |
| NM_001267550.2:c.52144A>G (TTN) MANE Select | NP_001254479.2:p.Arg17382Gly | |
| NM_003319.4:c.24949A>G (TTN) | NP_003310.4:p.Arg8317Gly | |
| NM_133378.4:c.44440A>G (TTN) | NP_596869.4:p.Arg14814Gly | |
| NM_133432.3:c.25324A>G (TTN) | NP_597676.3:p.Arg8442Gly | |
| NM_133437.4:c.25525A>G (TTN) | NP_597681.4:p.Arg8509Gly | |
| NR_038271.1:n.782+601T>C (TTN-AS1) | ||
| XM_011511729.1:c.51241A>G (TTN) | XP_011510031.1:p.Arg17081Gly | |
| XM_011511730.1:c.25135A>G (TTN) | XP_011510032.1:p.Arg8379Gly | |
| XM_011511731.1:c.24994A>G (TTN) | XP_011510033.1:p.Arg8332Gly | |
| XM_017004819.1:c.51037A>G (TTN) | XP_016860308.1:p.Arg17013Gly | |
| XM_017004820.1:c.46435A>G (TTN) | XP_016860309.1:p.Arg15479Gly | |
| XM_017004821.1:c.46432A>G (TTN) | XP_016860310.1:p.Arg15478Gly | |
| XM_017004822.1:c.43474A>G (TTN) | XP_016860311.1:p.Arg14492Gly | |
| XM_017004823.1:c.25090A>G (TTN) | XP_016860312.1:p.Arg8364Gly | |
| XM_024453094.1:c.46585A>G (TTN) | XP_024308862.1:p.Arg15529Gly | |
| XM_024453095.1:c.46582A>G (TTN) | XP_024308863.1:p.Arg15528Gly | |
| XM_024453096.1:c.46015A>G (TTN) | XP_024308864.1:p.Arg15339Gly | |
| XM_024453097.1:c.43357A>G (TTN) | XP_024308865.1:p.Arg14453Gly | |
| XM_024453098.1:c.43276A>G (TTN) | XP_024308866.1:p.Arg14426Gly | |
| XM_024453099.1:c.25039A>G (TTN) | XP_024308867.1:p.Arg8347Gly | |
| XM_024453100.1:c.14893A>G (TTN) | XP_024308868.1:p.Arg4965Gly |