Linked Data
ClinVar Variation Id:
179713
dbSNP Id:
rs727505072
gnomAD v2:
2-179403988-T-C
gnomAD v3:
2-178539261-T-C
gnomAD v4:
2-178539261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539261T>C , CM000664.2:g.178539261T>C | GRCh38 |
| NC_000002.11:g.179403988T>C , CM000664.1:g.179403988T>C | GRCh37 |
| NC_000002.10:g.179112234T>C | NCBI36 |
| NG_011618.3:g.296542A>G , LRG_391:g.296542A>G | |
| NG_051363.1:g.21435T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90980-10A>G (TTN) | ENSP00000343764.6:n.90980-10A>G | |
| ENST00000342175.11:c.72065-10A>G (TTN) | ENSP00000340554.6:n.72065-10A>G | |
| ENST00000359218.10:c.71864-10A>G (TTN) | ENSP00000352154.5:n.71864-10A>G | |
| ENST00000342175.10:c.72065-10A>G (TTN) | ENSP00000340554.6:n.72065-10A>G | |
| ENST00000342992.10:c.90980-10A>G (TTN) | ENSP00000343764.6:n.90980-10A>G | |
| ENST00000359218.9:c.71864-10A>G (TTN) | ENSP00000352154.5:n.71864-10A>G | |
| ENST00000460472.6:c.71489-10A>G (TTN) | ENSP00000434586.1:n.71489-10A>G | |
| ENST00000589042.5:c.98684-10A>G (TTN) MANE Select | ENSP00000467141.1:n.98684-10A>G | |
| ENST00000591111.5:c.93761-10A>G (TTN) | ENSP00000465570.1:n.93761-10A>G | |
| ENST00000615779.4:c.93761-10A>G (TTN) | ENSP00000483597.1:n.93761-10A>G | |
| NM_001256850.1:c.93761-10A>G (TTN) | NP_001243779.1:n.93761-10A>G | |
| NM_001267550.2:c.98684-10A>G (TTN) MANE Select | NP_001254479.2:n.98684-10A>G | |
| NM_003319.4:c.71489-10A>G (TTN) | NP_003310.4:n.71489-10A>G | |
| NM_133378.4:c.90980-10A>G (TTN) | NP_596869.4:n.90980-10A>G | |
| NM_133432.3:c.71864-10A>G (TTN) | NP_597676.3:n.71864-10A>G | |
| NM_133437.4:c.72065-10A>G (TTN) | NP_597681.4:n.72065-10A>G | |
| NR_038271.1:n.446+15625T>C (TTN-AS1) | ||
| NR_038272.1:n.1211T>C (TTN-AS1) | ||
| XM_011511729.1:c.97781-10A>G (TTN) | XP_011510031.1:n.97781-10A>G | |
| XM_011511730.1:c.71675-10A>G (TTN) | XP_011510032.1:n.71675-10A>G | |
| XM_011511731.1:c.71534-10A>G (TTN) | XP_011510033.1:n.71534-10A>G | |
| XM_017004819.1:c.97577-10A>G (TTN) | XP_016860308.1:n.97577-10A>G | |
| XM_017004820.1:c.92975-10A>G (TTN) | XP_016860309.1:n.92975-10A>G | |
| XM_017004821.1:c.92972-10A>G (TTN) | XP_016860310.1:n.92972-10A>G | |
| XM_017004822.1:c.90014-10A>G (TTN) | XP_016860311.1:n.90014-10A>G | |
| XM_017004823.1:c.71630-10A>G (TTN) | XP_016860312.1:n.71630-10A>G | |
| XM_024453094.1:c.93125-10A>G (TTN) | XP_024308862.1:n.93125-10A>G | |
| XM_024453095.1:c.93122-10A>G (TTN) | XP_024308863.1:n.93122-10A>G | |
| XM_024453096.1:c.92555-10A>G (TTN) | XP_024308864.1:n.92555-10A>G | |
| XM_024453097.1:c.89897-10A>G (TTN) | XP_024308865.1:n.89897-10A>G | |
| XM_024453098.1:c.89816-10A>G (TTN) | XP_024308866.1:n.89816-10A>G | |
| XM_024453099.1:c.71579-10A>G (TTN) | XP_024308867.1:n.71579-10A>G | |
| XM_024453100.1:c.61433-10A>G (TTN) | XP_024308868.1:n.61433-10A>G |