Linked Data
ClinVar Variation Id:
387603
dbSNP Id:
rs1057522835
gnomAD v3:
2-178551676-G-A
gnomAD v4:
2-178551676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551676G>A , CM000664.2:g.178551676G>A | GRCh38 |
| NC_000002.11:g.179416403G>A , CM000664.1:g.179416403G>A | GRCh37 |
| NC_000002.10:g.179124649G>A | NCBI36 |
| NG_011618.3:g.284127C>T , LRG_391:g.284127C>T | |
| NG_051363.1:g.33850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83520C>T (TTN) | ENSP00000343764.6:p.Ser27840= | |
| ENST00000342175.11:c.64605C>T (TTN) | ENSP00000340554.6:p.Ser21535= | |
| ENST00000359218.10:c.64404C>T (TTN) | ENSP00000352154.5:p.Ser21468= | |
| ENST00000342175.10:c.64605C>T (TTN) | ENSP00000340554.6:p.Ser21535= | |
| ENST00000342992.10:c.83520C>T (TTN) | ENSP00000343764.6:p.Ser27840= | |
| ENST00000359218.9:c.64404C>T (TTN) | ENSP00000352154.5:p.Ser21468= | |
| ENST00000460472.6:c.64029C>T (TTN) | ENSP00000434586.1:p.Ser21343= | |
| ENST00000589042.5:c.91224C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser30408= | |
| ENST00000591111.5:c.86301C>T (TTN) | ENSP00000465570.1:p.Ser28767= | |
| ENST00000615779.4:c.86301C>T (TTN) | ENSP00000483597.1:p.Ser28767= | |
| NM_001256850.1:c.86301C>T (TTN) | NP_001243779.1:p.Ser28767= | |
| NM_001267550.2:c.91224C>T (TTN) MANE Select | NP_001254479.2:p.Ser30408= | |
| NM_003319.4:c.64029C>T (TTN) | NP_003310.4:p.Ser21343= | |
| NM_133378.4:c.83520C>T (TTN) | NP_596869.4:p.Ser27840= | |
| NM_133432.3:c.64404C>T (TTN) | NP_597676.3:p.Ser21468= | |
| NM_133437.4:c.64605C>T (TTN) | NP_597681.4:p.Ser21535= | |
| NR_038271.1:n.447-19624G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9315G>A (TTN-AS1) | ||
| XM_011511729.1:c.90321C>T (TTN) | XP_011510031.1:p.Ser30107= | |
| XM_011511730.1:c.64215C>T (TTN) | XP_011510032.1:p.Ser21405= | |
| XM_011511731.1:c.64074C>T (TTN) | XP_011510033.1:p.Ser21358= | |
| XM_017004819.1:c.90117C>T (TTN) | XP_016860308.1:p.Ser30039= | |
| XM_017004820.1:c.85515C>T (TTN) | XP_016860309.1:p.Ser28505= | |
| XM_017004821.1:c.85512C>T (TTN) | XP_016860310.1:p.Ser28504= | |
| XM_017004822.1:c.82554C>T (TTN) | XP_016860311.1:p.Ser27518= | |
| XM_017004823.1:c.64170C>T (TTN) | XP_016860312.1:p.Ser21390= | |
| XM_024453094.1:c.85665C>T (TTN) | XP_024308862.1:p.Ser28555= | |
| XM_024453095.1:c.85662C>T (TTN) | XP_024308863.1:p.Ser28554= | |
| XM_024453096.1:c.85095C>T (TTN) | XP_024308864.1:p.Ser28365= | |
| XM_024453097.1:c.82437C>T (TTN) | XP_024308865.1:p.Ser27479= | |
| XM_024453098.1:c.82356C>T (TTN) | XP_024308866.1:p.Ser27452= | |
| XM_024453099.1:c.64119C>T (TTN) | XP_024308867.1:p.Ser21373= | |
| XM_024453100.1:c.53973C>T (TTN) | XP_024308868.1:p.Ser17991= |