Linked Data
ClinVar Variation Id:
220679
dbSNP Id:
rs376634193
ExAC:
2:179396406 C / G
gnomAD v2:
2-179396406-C-G
gnomAD v3:
2-178531679-C-G
gnomAD v4:
2-178531679-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531679C>G , CM000664.2:g.178531679C>G | GRCh38 |
| NC_000002.11:g.179396406C>G , CM000664.1:g.179396406C>G | GRCh37 |
| NC_000002.10:g.179104652C>G | NCBI36 |
| NG_011618.3:g.304124G>C , LRG_391:g.304124G>C | |
| NG_051363.1:g.13853C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97232G>C (TTN) | ENSP00000343764.6:p.Gly32411Ala | |
| ENST00000342175.11:c.78317G>C (TTN) | ENSP00000340554.6:p.Gly26106Ala | |
| ENST00000359218.10:c.78116G>C (TTN) | ENSP00000352154.5:p.Gly26039Ala | |
| ENST00000342175.10:c.78317G>C (TTN) | ENSP00000340554.6:p.Gly26106Ala | |
| ENST00000342992.10:c.97232G>C (TTN) | ENSP00000343764.6:p.Gly32411Ala | |
| ENST00000359218.9:c.78116G>C (TTN) | ENSP00000352154.5:p.Gly26039Ala | |
| ENST00000460472.6:c.77741G>C (TTN) | ENSP00000434586.1:p.Gly25914Ala | |
| ENST00000589042.5:c.104936G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly34979Ala | |
| ENST00000591111.5:c.100013G>C (TTN) | ENSP00000465570.1:p.Gly33338Ala | |
| ENST00000615779.4:c.100013G>C (TTN) | ENSP00000483597.1:p.Gly33338Ala | |
| NM_001256850.1:c.100013G>C (TTN) | NP_001243779.1:p.Gly33338Ala | |
| NM_001267550.2:c.104936G>C (TTN) MANE Select | NP_001254479.2:p.Gly34979Ala | |
| NM_003319.4:c.77741G>C (TTN) | NP_003310.4:p.Gly25914Ala | |
| NM_133378.4:c.97232G>C (TTN) | NP_596869.4:p.Gly32411Ala | |
| NM_133432.3:c.78116G>C (TTN) | NP_597676.3:p.Gly26039Ala | |
| NM_133437.4:c.78317G>C (TTN) | NP_597681.4:p.Gly26106Ala | |
| NR_038271.1:n.446+8043C>G (TTN-AS1) | ||
| NR_038272.1:n.220-4053C>G (TTN-AS1) | ||
| XM_011511729.1:c.104033G>C (TTN) | XP_011510031.1:p.Gly34678Ala | |
| XM_011511730.1:c.77927G>C (TTN) | XP_011510032.1:p.Gly25976Ala | |
| XM_011511731.1:c.77786G>C (TTN) | XP_011510033.1:p.Gly25929Ala | |
| XM_017004819.1:c.103829G>C (TTN) | XP_016860308.1:p.Gly34610Ala | |
| XM_017004820.1:c.99227G>C (TTN) | XP_016860309.1:p.Gly33076Ala | |
| XM_017004821.1:c.99224G>C (TTN) | XP_016860310.1:p.Gly33075Ala | |
| XM_017004822.1:c.96266G>C (TTN) | XP_016860311.1:p.Gly32089Ala | |
| XM_017004823.1:c.77882G>C (TTN) | XP_016860312.1:p.Gly25961Ala | |
| XM_024453094.1:c.99377G>C (TTN) | XP_024308862.1:p.Gly33126Ala | |
| XM_024453095.1:c.99374G>C (TTN) | XP_024308863.1:p.Gly33125Ala | |
| XM_024453096.1:c.98807G>C (TTN) | XP_024308864.1:p.Gly32936Ala | |
| XM_024453097.1:c.96149G>C (TTN) | XP_024308865.1:p.Gly32050Ala | |
| XM_024453098.1:c.96068G>C (TTN) | XP_024308866.1:p.Gly32023Ala | |
| XM_024453099.1:c.77831G>C (TTN) | XP_024308867.1:p.Gly25944Ala | |
| XM_024453100.1:c.67685G>C (TTN) | XP_024308868.1:p.Gly22562Ala |