Linked Data
ClinVar Variation Id:
178195
dbSNP Id:
rs201381085
ExAC:
2:179442198 C / G
gnomAD v2:
2-179442198-C-G
gnomAD v3:
2-178577471-C-G
gnomAD v4:
2-178577471-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577471C>G , CM000664.2:g.178577471C>G | GRCh38 |
| NC_000002.11:g.179442198C>G , CM000664.1:g.179442198C>G | GRCh37 |
| NC_000002.10:g.179150444C>G | NCBI36 |
| NG_011618.3:g.258332G>C , LRG_391:g.258332G>C | |
| NG_051363.1:g.59645C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61160G>C (TTN) | ENSP00000343764.6:p.Gly20387Ala | |
| ENST00000342175.11:c.42245G>C (TTN) | ENSP00000340554.6:p.Gly14082Ala | |
| ENST00000359218.10:c.42044G>C (TTN) | ENSP00000352154.5:p.Gly14015Ala | |
| ENST00000342175.10:c.42245G>C (TTN) | ENSP00000340554.6:p.Gly14082Ala | |
| ENST00000342992.10:c.61160G>C (TTN) | ENSP00000343764.6:p.Gly20387Ala | |
| ENST00000359218.9:c.42044G>C (TTN) | ENSP00000352154.5:p.Gly14015Ala | |
| ENST00000460472.6:c.41669G>C (TTN) | ENSP00000434586.1:p.Gly13890Ala | |
| ENST00000589042.5:c.68864G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly22955Ala | |
| ENST00000591111.5:c.63941G>C (TTN) | ENSP00000465570.1:p.Gly21314Ala | |
| ENST00000615779.4:c.63941G>C (TTN) | ENSP00000483597.1:p.Gly21314Ala | |
| NM_001256850.1:c.63941G>C (TTN) | NP_001243779.1:p.Gly21314Ala | |
| NM_001267550.2:c.68864G>C (TTN) MANE Select | NP_001254479.2:p.Gly22955Ala | |
| NM_003319.4:c.41669G>C (TTN) | NP_003310.4:p.Gly13890Ala | |
| NM_133378.4:c.61160G>C (TTN) | NP_596869.4:p.Gly20387Ala | |
| NM_133432.3:c.42044G>C (TTN) | NP_597676.3:p.Gly14015Ala | |
| NM_133437.4:c.42245G>C (TTN) | NP_597681.4:p.Gly14082Ala | |
| NR_038271.1:n.596+6022C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-5101C>G (TTN-AS1) | ||
| XM_011511729.1:c.67961G>C (TTN) | XP_011510031.1:p.Gly22654Ala | |
| XM_011511730.1:c.41855G>C (TTN) | XP_011510032.1:p.Gly13952Ala | |
| XM_011511731.1:c.41714G>C (TTN) | XP_011510033.1:p.Gly13905Ala | |
| XM_017004819.1:c.67757G>C (TTN) | XP_016860308.1:p.Gly22586Ala | |
| XM_017004820.1:c.63155G>C (TTN) | XP_016860309.1:p.Gly21052Ala | |
| XM_017004821.1:c.63152G>C (TTN) | XP_016860310.1:p.Gly21051Ala | |
| XM_017004822.1:c.60194G>C (TTN) | XP_016860311.1:p.Gly20065Ala | |
| XM_017004823.1:c.41810G>C (TTN) | XP_016860312.1:p.Gly13937Ala | |
| XM_024453094.1:c.63305G>C (TTN) | XP_024308862.1:p.Gly21102Ala | |
| XM_024453095.1:c.63302G>C (TTN) | XP_024308863.1:p.Gly21101Ala | |
| XM_024453096.1:c.62735G>C (TTN) | XP_024308864.1:p.Gly20912Ala | |
| XM_024453097.1:c.60077G>C (TTN) | XP_024308865.1:p.Gly20026Ala | |
| XM_024453098.1:c.59996G>C (TTN) | XP_024308866.1:p.Gly19999Ala | |
| XM_024453099.1:c.41759G>C (TTN) | XP_024308867.1:p.Gly13920Ala | |
| XM_024453100.1:c.31613G>C (TTN) | XP_024308868.1:p.Gly10538Ala |