Linked Data
ClinVar Variation Id:
47090
ClinVar RCV Id:
RCV000040360
RCV000724174
RCV001128980
RCV001128982
RCV001128981
RCV001128983
RCV001131641
dbSNP Id:
rs368265962
ExAC:
2:179469429 G / C
gnomAD v2:
2-179469429-G-C
gnomAD v3:
2-178604702-G-C
gnomAD v4:
2-178604702-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604702G>C , CM000664.2:g.178604702G>C | GRCh38 |
| NC_000002.11:g.179469429G>C , CM000664.1:g.179469429G>C | GRCh37 |
| NC_000002.10:g.179177674G>C | NCBI36 |
| NG_011618.3:g.231101C>G , LRG_391:g.231101C>G | |
| NG_051363.1:g.86876G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46677+6C>G (TTN) | ENSP00000343764.6:n.46677+6C>G | |
| ENST00000342175.11:c.27762+6C>G (TTN) | ENSP00000340554.6:n.27762+6C>G | |
| ENST00000359218.10:c.27561+6C>G (TTN) | ENSP00000352154.5:n.27561+6C>G | |
| ENST00000342175.10:c.27762+6C>G (TTN) | ENSP00000340554.6:n.27762+6C>G | |
| ENST00000342992.10:c.46677+6C>G (TTN) | ENSP00000343764.6:n.46677+6C>G | |
| ENST00000359218.9:c.27561+6C>G (TTN) | ENSP00000352154.5:n.27561+6C>G | |
| ENST00000460472.6:c.27186+6C>G (TTN) | ENSP00000434586.1:n.27186+6C>G | |
| ENST00000589042.5:c.54381+6C>G (TTN) MANE Select | ENSP00000467141.1:n.54381+6C>G | |
| ENST00000591111.5:c.49458+6C>G (TTN) | ENSP00000465570.1:n.49458+6C>G | |
| ENST00000615779.4:c.49458+6C>G (TTN) | ENSP00000483597.1:n.49458+6C>G | |
| NM_001256850.1:c.49458+6C>G (TTN) | NP_001243779.1:n.49458+6C>G | |
| NM_001267550.2:c.54381+6C>G (TTN) MANE Select | NP_001254479.2:n.54381+6C>G | |
| NM_003319.4:c.27186+6C>G (TTN) | NP_003310.4:n.27186+6C>G | |
| NM_133378.4:c.46677+6C>G (TTN) | NP_596869.4:n.46677+6C>G | |
| NM_133432.3:c.27561+6C>G (TTN) | NP_597676.3:n.27561+6C>G | |
| NM_133437.4:c.27762+6C>G (TTN) | NP_597681.4:n.27762+6C>G | |
| NR_038271.1:n.683-3465G>C (TTN-AS1) | ||
| NR_038272.1:n.3918-29G>C (TTN-AS1) | ||
| XM_011511729.1:c.53478+6C>G (TTN) | XP_011510031.1:n.53478+6C>G | |
| XM_011511730.1:c.27372+6C>G (TTN) | XP_011510032.1:n.27372+6C>G | |
| XM_011511731.1:c.27231+6C>G (TTN) | XP_011510033.1:n.27231+6C>G | |
| XM_017004819.1:c.53274+6C>G (TTN) | XP_016860308.1:n.53274+6C>G | |
| XM_017004820.1:c.48672+6C>G (TTN) | XP_016860309.1:n.48672+6C>G | |
| XM_017004821.1:c.48669+6C>G (TTN) | XP_016860310.1:n.48669+6C>G | |
| XM_017004822.1:c.45711+6C>G (TTN) | XP_016860311.1:n.45711+6C>G | |
| XM_017004823.1:c.27327+6C>G (TTN) | XP_016860312.1:n.27327+6C>G | |
| XM_024453094.1:c.48822+6C>G (TTN) | XP_024308862.1:n.48822+6C>G | |
| XM_024453095.1:c.48819+6C>G (TTN) | XP_024308863.1:n.48819+6C>G | |
| XM_024453096.1:c.48252+6C>G (TTN) | XP_024308864.1:n.48252+6C>G | |
| XM_024453097.1:c.45594+6C>G (TTN) | XP_024308865.1:n.45594+6C>G | |
| XM_024453098.1:c.45513+6C>G (TTN) | XP_024308866.1:n.45513+6C>G | |
| XM_024453099.1:c.27276+6C>G (TTN) | XP_024308867.1:n.27276+6C>G | |
| XM_024453100.1:c.17130+6C>G (TTN) | XP_024308868.1:n.17130+6C>G |