Linked Data
dbSNP Id:
rs1421739621
gnomAD v2:
2-179417294-C-G
gnomAD v3:
2-178552567-C-G
gnomAD v4:
2-178552567-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552567C>G , CM000664.2:g.178552567C>G | GRCh38 |
| NC_000002.11:g.179417294C>G , CM000664.1:g.179417294C>G | GRCh37 |
| NC_000002.10:g.179125540C>G | NCBI36 |
| NG_011618.3:g.283236G>C , LRG_391:g.283236G>C | |
| NG_051363.1:g.34741C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.82629G>C (TTN) | ENSP00000343764.6:p.Leu27543= | |
| ENST00000342175.11:c.63714G>C (TTN) | ENSP00000340554.6:p.Leu21238= | |
| ENST00000359218.10:c.63513G>C (TTN) | ENSP00000352154.5:p.Leu21171= | |
| ENST00000342175.10:c.63714G>C (TTN) | ENSP00000340554.6:p.Leu21238= | |
| ENST00000342992.10:c.82629G>C (TTN) | ENSP00000343764.6:p.Leu27543= | |
| ENST00000359218.9:c.63513G>C (TTN) | ENSP00000352154.5:p.Leu21171= | |
| ENST00000460472.6:c.63138G>C (TTN) | ENSP00000434586.1:p.Leu21046= | |
| ENST00000589042.5:c.90333G>C (TTN) MANE Select | ENSP00000467141.1:p.Leu30111= | |
| ENST00000591111.5:c.85410G>C (TTN) | ENSP00000465570.1:p.Leu28470= | |
| ENST00000615779.4:c.85410G>C (TTN) | ENSP00000483597.1:p.Leu28470= | |
| NM_001256850.1:c.85410G>C (TTN) | NP_001243779.1:p.Leu28470= | |
| NM_001267550.2:c.90333G>C (TTN) MANE Select | NP_001254479.2:p.Leu30111= | |
| NM_003319.4:c.63138G>C (TTN) | NP_003310.4:p.Leu21046= | |
| NM_133378.4:c.82629G>C (TTN) | NP_596869.4:p.Leu27543= | |
| NM_133432.3:c.63513G>C (TTN) | NP_597676.3:p.Leu21171= | |
| NM_133437.4:c.63714G>C (TTN) | NP_597681.4:p.Leu21238= | |
| NR_038271.1:n.447-18733C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+10206C>G (TTN-AS1) | ||
| XM_011511729.1:c.89430G>C (TTN) | XP_011510031.1:p.Leu29810= | |
| XM_011511730.1:c.63324G>C (TTN) | XP_011510032.1:p.Leu21108= | |
| XM_011511731.1:c.63183G>C (TTN) | XP_011510033.1:p.Leu21061= | |
| XM_017004819.1:c.89226G>C (TTN) | XP_016860308.1:p.Leu29742= | |
| XM_017004820.1:c.84624G>C (TTN) | XP_016860309.1:p.Leu28208= | |
| XM_017004821.1:c.84621G>C (TTN) | XP_016860310.1:p.Leu28207= | |
| XM_017004822.1:c.81663G>C (TTN) | XP_016860311.1:p.Leu27221= | |
| XM_017004823.1:c.63279G>C (TTN) | XP_016860312.1:p.Leu21093= | |
| XM_024453094.1:c.84774G>C (TTN) | XP_024308862.1:p.Leu28258= | |
| XM_024453095.1:c.84771G>C (TTN) | XP_024308863.1:p.Leu28257= | |
| XM_024453096.1:c.84204G>C (TTN) | XP_024308864.1:p.Leu28068= | |
| XM_024453097.1:c.81546G>C (TTN) | XP_024308865.1:p.Leu27182= | |
| XM_024453098.1:c.81465G>C (TTN) | XP_024308866.1:p.Leu27155= | |
| XM_024453099.1:c.63228G>C (TTN) | XP_024308867.1:p.Leu21076= | |
| XM_024453100.1:c.53082G>C (TTN) | XP_024308868.1:p.Leu17694= |