Linked Data
ClinVar Variation Id:
242425
dbSNP Id:
rs753948675
ExAC:
2:179444577 T / G
gnomAD v2:
2-179444577-T-G
gnomAD v3:
2-178579850-T-G
gnomAD v4:
2-178579850-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579850T>G , CM000664.2:g.178579850T>G | GRCh38 |
| NC_000002.11:g.179444577T>G , CM000664.1:g.179444577T>G | GRCh37 |
| NC_000002.10:g.179152823T>G | NCBI36 |
| NG_011618.3:g.255953A>C , LRG_391:g.255953A>C | |
| NG_051363.1:g.62024T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59645-2A>C (TTN) | ENSP00000343764.6:n.59645-2A>C | |
| ENST00000342175.11:c.40730-2A>C (TTN) | ENSP00000340554.6:n.40730-2A>C | |
| ENST00000359218.10:c.40529-2A>C (TTN) | ENSP00000352154.5:n.40529-2A>C | |
| ENST00000342175.10:c.40730-2A>C (TTN) | ENSP00000340554.6:n.40730-2A>C | |
| ENST00000342992.10:c.59645-2A>C (TTN) | ENSP00000343764.6:n.59645-2A>C | |
| ENST00000359218.9:c.40529-2A>C (TTN) | ENSP00000352154.5:n.40529-2A>C | |
| ENST00000460472.6:c.40154-2A>C (TTN) | ENSP00000434586.1:n.40154-2A>C | |
| ENST00000589042.5:c.67349-2A>C (TTN) MANE Select | ENSP00000467141.1:n.67349-2A>C | |
| ENST00000591111.5:c.62426-2A>C (TTN) | ENSP00000465570.1:n.62426-2A>C | |
| ENST00000615779.4:c.62426-2A>C (TTN) | ENSP00000483597.1:n.62426-2A>C | |
| NM_001256850.1:c.62426-2A>C (TTN) | NP_001243779.1:n.62426-2A>C | |
| NM_001267550.2:c.67349-2A>C (TTN) MANE Select | NP_001254479.2:n.67349-2A>C | |
| NM_003319.4:c.40154-2A>C (TTN) | NP_003310.4:n.40154-2A>C | |
| NM_133378.4:c.59645-2A>C (TTN) | NP_596869.4:n.59645-2A>C | |
| NM_133432.3:c.40529-2A>C (TTN) | NP_597676.3:n.40529-2A>C | |
| NM_133437.4:c.40730-2A>C (TTN) | NP_597681.4:n.40730-2A>C | |
| NR_038271.1:n.596+8401T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-2722T>G (TTN-AS1) | ||
| XM_011511729.1:c.66446-2A>C (TTN) | XP_011510031.1:n.66446-2A>C | |
| XM_011511730.1:c.40340-2A>C (TTN) | XP_011510032.1:n.40340-2A>C | |
| XM_011511731.1:c.40199-2A>C (TTN) | XP_011510033.1:n.40199-2A>C | |
| XM_017004819.1:c.66242-2A>C (TTN) | XP_016860308.1:n.66242-2A>C | |
| XM_017004820.1:c.61640-2A>C (TTN) | XP_016860309.1:n.61640-2A>C | |
| XM_017004821.1:c.61637-2A>C (TTN) | XP_016860310.1:n.61637-2A>C | |
| XM_017004822.1:c.58679-2A>C (TTN) | XP_016860311.1:n.58679-2A>C | |
| XM_017004823.1:c.40295-2A>C (TTN) | XP_016860312.1:n.40295-2A>C | |
| XM_024453094.1:c.61790-2A>C (TTN) | XP_024308862.1:n.61790-2A>C | |
| XM_024453095.1:c.61787-2A>C (TTN) | XP_024308863.1:n.61787-2A>C | |
| XM_024453096.1:c.61220-2A>C (TTN) | XP_024308864.1:n.61220-2A>C | |
| XM_024453097.1:c.58562-2A>C (TTN) | XP_024308865.1:n.58562-2A>C | |
| XM_024453098.1:c.58481-2A>C (TTN) | XP_024308866.1:n.58481-2A>C | |
| XM_024453099.1:c.40244-2A>C (TTN) | XP_024308867.1:n.40244-2A>C | |
| XM_024453100.1:c.30098-2A>C (TTN) | XP_024308868.1:n.30098-2A>C |