Linked Data
ClinVar Variation Id:
202273
dbSNP Id:
rs149890360
ExAC:
2:179472122 C / T
gnomAD v2:
2-179472122-C-T
gnomAD v3:
2-178607395-C-T
gnomAD v4:
2-178607395-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607395C>T , CM000664.2:g.178607395C>T | GRCh38 |
| NC_000002.11:g.179472122C>T , CM000664.1:g.179472122C>T | GRCh37 |
| NC_000002.10:g.179180367C>T | NCBI36 |
| NG_011618.3:g.228408G>A , LRG_391:g.228408G>A | |
| NG_051363.1:g.89569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45583+6G>A (TTN) | ENSP00000343764.6:n.45583+6G>A | |
| ENST00000342175.11:c.26668+6G>A (TTN) | ENSP00000340554.6:n.26668+6G>A | |
| ENST00000359218.10:c.26467+6G>A (TTN) | ENSP00000352154.5:n.26467+6G>A | |
| ENST00000342175.10:c.26668+6G>A (TTN) | ENSP00000340554.6:n.26668+6G>A | |
| ENST00000342992.10:c.45583+6G>A (TTN) | ENSP00000343764.6:n.45583+6G>A | |
| ENST00000359218.9:c.26467+6G>A (TTN) | ENSP00000352154.5:n.26467+6G>A | |
| ENST00000460472.6:c.26092+6G>A (TTN) | ENSP00000434586.1:n.26092+6G>A | |
| ENST00000589042.5:c.53287+6G>A (TTN) MANE Select | ENSP00000467141.1:n.53287+6G>A | |
| ENST00000591111.5:c.48364+6G>A (TTN) | ENSP00000465570.1:n.48364+6G>A | |
| ENST00000615779.4:c.48364+6G>A (TTN) | ENSP00000483597.1:n.48364+6G>A | |
| NM_001256850.1:c.48364+6G>A (TTN) | NP_001243779.1:n.48364+6G>A | |
| NM_001267550.2:c.53287+6G>A (TTN) MANE Select | NP_001254479.2:n.53287+6G>A | |
| NM_003319.4:c.26092+6G>A (TTN) | NP_003310.4:n.26092+6G>A | |
| NM_133378.4:c.45583+6G>A (TTN) | NP_596869.4:n.45583+6G>A | |
| NM_133432.3:c.26467+6G>A (TTN) | NP_597676.3:n.26467+6G>A | |
| NM_133437.4:c.26668+6G>A (TTN) | NP_597681.4:n.26668+6G>A | |
| NR_038271.1:n.683-772C>T (TTN-AS1) | ||
| XM_011511729.1:c.52384+6G>A (TTN) | XP_011510031.1:n.52384+6G>A | |
| XM_011511730.1:c.26278+6G>A (TTN) | XP_011510032.1:n.26278+6G>A | |
| XM_011511731.1:c.26137+6G>A (TTN) | XP_011510033.1:n.26137+6G>A | |
| XM_017004819.1:c.52180+6G>A (TTN) | XP_016860308.1:n.52180+6G>A | |
| XM_017004820.1:c.47578+6G>A (TTN) | XP_016860309.1:n.47578+6G>A | |
| XM_017004821.1:c.47575+6G>A (TTN) | XP_016860310.1:n.47575+6G>A | |
| XM_017004822.1:c.44617+6G>A (TTN) | XP_016860311.1:n.44617+6G>A | |
| XM_017004823.1:c.26233+6G>A (TTN) | XP_016860312.1:n.26233+6G>A | |
| XM_024453094.1:c.47728+6G>A (TTN) | XP_024308862.1:n.47728+6G>A | |
| XM_024453095.1:c.47725+6G>A (TTN) | XP_024308863.1:n.47725+6G>A | |
| XM_024453096.1:c.47158+6G>A (TTN) | XP_024308864.1:n.47158+6G>A | |
| XM_024453097.1:c.44500+6G>A (TTN) | XP_024308865.1:n.44500+6G>A | |
| XM_024453098.1:c.44419+6G>A (TTN) | XP_024308866.1:n.44419+6G>A | |
| XM_024453099.1:c.26182+6G>A (TTN) | XP_024308867.1:n.26182+6G>A | |
| XM_024453100.1:c.16036+6G>A (TTN) | XP_024308868.1:n.16036+6G>A |