Linked Data
ClinVar Variation Id:
179965
dbSNP Id:
rs727505248
ExAC:
2:179478483 T / C
gnomAD v2:
2-179478483-T-C
gnomAD v4:
2-178613756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613756T>C , CM000664.2:g.178613756T>C | GRCh38 |
| NC_000002.11:g.179478483T>C , CM000664.1:g.179478483T>C | GRCh37 |
| NC_000002.10:g.179186728T>C | NCBI36 |
| NG_011618.3:g.222047A>G , LRG_391:g.222047A>G | |
| NG_051363.1:g.95930T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41823A>G (TTN) | ENSP00000343764.6:p.Thr13941= | |
| ENST00000342175.11:c.22908A>G (TTN) | ENSP00000340554.6:p.Thr7636= | |
| ENST00000359218.10:c.22707A>G (TTN) | ENSP00000352154.5:p.Thr7569= | |
| ENST00000342175.10:c.22908A>G (TTN) | ENSP00000340554.6:p.Thr7636= | |
| ENST00000342992.10:c.41823A>G (TTN) | ENSP00000343764.6:p.Thr13941= | |
| ENST00000359218.9:c.22707A>G (TTN) | ENSP00000352154.5:p.Thr7569= | |
| ENST00000460472.6:c.22332A>G (TTN) | ENSP00000434586.1:p.Thr7444= | |
| ENST00000589042.5:c.49527A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr16509= | |
| ENST00000591111.5:c.44604A>G (TTN) | ENSP00000465570.1:p.Thr14868= | |
| ENST00000615779.4:c.44604A>G (TTN) | ENSP00000483597.1:p.Thr14868= | |
| NM_001256850.1:c.44604A>G (TTN) | NP_001243779.1:p.Thr14868= | |
| NM_001267550.2:c.49527A>G (TTN) MANE Select | NP_001254479.2:p.Thr16509= | |
| NM_003319.4:c.22332A>G (TTN) | NP_003310.4:p.Thr7444= | |
| NM_133378.4:c.41823A>G (TTN) | NP_596869.4:p.Thr13941= | |
| NM_133432.3:c.22707A>G (TTN) | NP_597676.3:p.Thr7569= | |
| NM_133437.4:c.22908A>G (TTN) | NP_597681.4:p.Thr7636= | |
| NR_038271.1:n.783-279T>C (TTN-AS1) | ||
| XM_011511729.1:c.48624A>G (TTN) | XP_011510031.1:p.Thr16208= | |
| XM_011511730.1:c.22518A>G (TTN) | XP_011510032.1:p.Thr7506= | |
| XM_011511731.1:c.22377A>G (TTN) | XP_011510033.1:p.Thr7459= | |
| XM_017004819.1:c.48420A>G (TTN) | XP_016860308.1:p.Thr16140= | |
| XM_017004820.1:c.43818A>G (TTN) | XP_016860309.1:p.Thr14606= | |
| XM_017004821.1:c.43815A>G (TTN) | XP_016860310.1:p.Thr14605= | |
| XM_017004822.1:c.40857A>G (TTN) | XP_016860311.1:p.Thr13619= | |
| XM_017004823.1:c.22473A>G (TTN) | XP_016860312.1:p.Thr7491= | |
| XM_024453094.1:c.43968A>G (TTN) | XP_024308862.1:p.Thr14656= | |
| XM_024453095.1:c.43965A>G (TTN) | XP_024308863.1:p.Thr14655= | |
| XM_024453096.1:c.43398A>G (TTN) | XP_024308864.1:p.Thr14466= | |
| XM_024453097.1:c.40740A>G (TTN) | XP_024308865.1:p.Thr13580= | |
| XM_024453098.1:c.40659A>G (TTN) | XP_024308866.1:p.Thr13553= | |
| XM_024453099.1:c.22422A>G (TTN) | XP_024308867.1:p.Thr7474= | |
| XM_024453100.1:c.12276A>G (TTN) | XP_024308868.1:p.Thr4092= |