Linked Data
ClinVar Variation Id:
202725
dbSNP Id:
rs72646822
ExAC:
2:179466400 T / C
gnomAD v2:
2-179466400-T-C
gnomAD v3:
2-178601673-T-C
gnomAD v4:
2-178601673-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601673T>C , CM000664.2:g.178601673T>C | GRCh38 |
| NC_000002.11:g.179466400T>C , CM000664.1:g.179466400T>C | GRCh37 |
| NC_000002.10:g.179174645T>C | NCBI36 |
| NG_011618.3:g.234130A>G , LRG_391:g.234130A>G | |
| NG_051363.1:g.83847T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47713A>G (TTN) | ENSP00000343764.6:p.Arg15905Gly | |
| ENST00000342175.11:c.28798A>G (TTN) | ENSP00000340554.6:p.Arg9600Gly | |
| ENST00000359218.10:c.28597A>G (TTN) | ENSP00000352154.5:p.Arg9533Gly | |
| ENST00000342175.10:c.28798A>G (TTN) | ENSP00000340554.6:p.Arg9600Gly | |
| ENST00000342992.10:c.47713A>G (TTN) | ENSP00000343764.6:p.Arg15905Gly | |
| ENST00000359218.9:c.28597A>G (TTN) | ENSP00000352154.5:p.Arg9533Gly | |
| ENST00000460472.6:c.28222A>G (TTN) | ENSP00000434586.1:p.Arg9408Gly | |
| ENST00000589042.5:c.55417A>G (TTN) MANE Select | ENSP00000467141.1:p.Arg18473Gly | |
| ENST00000591111.5:c.50494A>G (TTN) | ENSP00000465570.1:p.Arg16832Gly | |
| ENST00000615779.4:c.50494A>G (TTN) | ENSP00000483597.1:p.Arg16832Gly | |
| NM_001256850.1:c.50494A>G (TTN) | NP_001243779.1:p.Arg16832Gly | |
| NM_001267550.2:c.55417A>G (TTN) MANE Select | NP_001254479.2:p.Arg18473Gly | |
| NM_003319.4:c.28222A>G (TTN) | NP_003310.4:p.Arg9408Gly | |
| NM_133378.4:c.47713A>G (TTN) | NP_596869.4:p.Arg15905Gly | |
| NM_133432.3:c.28597A>G (TTN) | NP_597676.3:p.Arg9533Gly | |
| NM_133437.4:c.28798A>G (TTN) | NP_597681.4:p.Arg9600Gly | |
| NR_038271.1:n.682+3992T>C (TTN-AS1) | ||
| NR_038272.1:n.3917+1006T>C (TTN-AS1) | ||
| XM_011511729.1:c.54514A>G (TTN) | XP_011510031.1:p.Arg18172Gly | |
| XM_011511730.1:c.28408A>G (TTN) | XP_011510032.1:p.Arg9470Gly | |
| XM_011511731.1:c.28267A>G (TTN) | XP_011510033.1:p.Arg9423Gly | |
| XM_017004819.1:c.54310A>G (TTN) | XP_016860308.1:p.Arg18104Gly | |
| XM_017004820.1:c.49708A>G (TTN) | XP_016860309.1:p.Arg16570Gly | |
| XM_017004821.1:c.49705A>G (TTN) | XP_016860310.1:p.Arg16569Gly | |
| XM_017004822.1:c.46747A>G (TTN) | XP_016860311.1:p.Arg15583Gly | |
| XM_017004823.1:c.28363A>G (TTN) | XP_016860312.1:p.Arg9455Gly | |
| XM_024453094.1:c.49858A>G (TTN) | XP_024308862.1:p.Arg16620Gly | |
| XM_024453095.1:c.49855A>G (TTN) | XP_024308863.1:p.Arg16619Gly | |
| XM_024453096.1:c.49288A>G (TTN) | XP_024308864.1:p.Arg16430Gly | |
| XM_024453097.1:c.46630A>G (TTN) | XP_024308865.1:p.Arg15544Gly | |
| XM_024453098.1:c.46549A>G (TTN) | XP_024308866.1:p.Arg15517Gly | |
| XM_024453099.1:c.28312A>G (TTN) | XP_024308867.1:p.Arg9438Gly | |
| XM_024453100.1:c.18166A>G (TTN) | XP_024308868.1:p.Arg6056Gly |