Linked Data
ClinVar Variation Id:
430269
dbSNP Id:
rs1131691873
gnomAD v2:
2-179418640-C-G
gnomAD v3:
2-178553913-C-G
gnomAD v4:
2-178553913-C-G
PubMed:
PMID:22335739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553913C>G , CM000664.2:g.178553913C>G | GRCh38 |
| NC_000002.11:g.179418640C>G , CM000664.1:g.179418640C>G | GRCh37 |
| NC_000002.10:g.179126886C>G | NCBI36 |
| NG_011618.3:g.281890G>C , LRG_391:g.281890G>C | |
| NG_051363.1:g.36087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81493+1G>C (TTN) | ENSP00000343764.6:n.81493+1G>C | |
| ENST00000342175.11:c.62578+1G>C (TTN) | ENSP00000340554.6:n.62578+1G>C | |
| ENST00000359218.10:c.62377+1G>C (TTN) | ENSP00000352154.5:n.62377+1G>C | |
| ENST00000342175.10:c.62578+1G>C (TTN) | ENSP00000340554.6:n.62578+1G>C | |
| ENST00000342992.10:c.81493+1G>C (TTN) | ENSP00000343764.6:n.81493+1G>C | |
| ENST00000359218.9:c.62377+1G>C (TTN) | ENSP00000352154.5:n.62377+1G>C | |
| ENST00000460472.6:c.62002+1G>C (TTN) | ENSP00000434586.1:n.62002+1G>C | |
| ENST00000589042.5:c.89197+1G>C (TTN) MANE Select | ENSP00000467141.1:n.89197+1G>C | |
| ENST00000591111.5:c.84274+1G>C (TTN) | ENSP00000465570.1:n.84274+1G>C | |
| ENST00000615779.4:c.84274+1G>C (TTN) | ENSP00000483597.1:n.84274+1G>C | |
| NM_001256850.1:c.84274+1G>C (TTN) | NP_001243779.1:n.84274+1G>C | |
| NM_001267550.2:c.89197+1G>C (TTN) MANE Select | NP_001254479.2:n.89197+1G>C | |
| NM_003319.4:c.62002+1G>C (TTN) | NP_003310.4:n.62002+1G>C | |
| NM_133378.4:c.81493+1G>C (TTN) | NP_596869.4:n.81493+1G>C | |
| NM_133432.3:c.62377+1G>C (TTN) | NP_597676.3:n.62377+1G>C | |
| NM_133437.4:c.62578+1G>C (TTN) | NP_597681.4:n.62578+1G>C | |
| NR_038271.1:n.447-17387C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+11552C>G (TTN-AS1) | ||
| XM_011511729.1:c.88294+1G>C (TTN) | XP_011510031.1:n.88294+1G>C | |
| XM_011511730.1:c.62188+1G>C (TTN) | XP_011510032.1:n.62188+1G>C | |
| XM_011511731.1:c.62047+1G>C (TTN) | XP_011510033.1:n.62047+1G>C | |
| XM_017004819.1:c.88090+1G>C (TTN) | XP_016860308.1:n.88090+1G>C | |
| XM_017004820.1:c.83488+1G>C (TTN) | XP_016860309.1:n.83488+1G>C | |
| XM_017004821.1:c.83485+1G>C (TTN) | XP_016860310.1:n.83485+1G>C | |
| XM_017004822.1:c.80527+1G>C (TTN) | XP_016860311.1:n.80527+1G>C | |
| XM_017004823.1:c.62143+1G>C (TTN) | XP_016860312.1:n.62143+1G>C | |
| XM_024453094.1:c.83638+1G>C (TTN) | XP_024308862.1:n.83638+1G>C | |
| XM_024453095.1:c.83635+1G>C (TTN) | XP_024308863.1:n.83635+1G>C | |
| XM_024453096.1:c.83068+1G>C (TTN) | XP_024308864.1:n.83068+1G>C | |
| XM_024453097.1:c.80410+1G>C (TTN) | XP_024308865.1:n.80410+1G>C | |
| XM_024453098.1:c.80329+1G>C (TTN) | XP_024308866.1:n.80329+1G>C | |
| XM_024453099.1:c.62092+1G>C (TTN) | XP_024308867.1:n.62092+1G>C | |
| XM_024453100.1:c.51946+1G>C (TTN) | XP_024308868.1:n.51946+1G>C |