Linked Data
ClinVar Variation Id:
47096
ClinVar RCV Id:
RCV001134383
RCV001135848
RCV001135849
RCV001135846
RCV001135847
RCV002054794
RCV000040366
dbSNP Id:
rs201450276
ExAC:
2:179468588 C / T
gnomAD v2:
2-179468588-C-T
gnomAD v3:
2-178603861-C-T
gnomAD v4:
2-178603861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178603861C>T , CM000664.2:g.178603861C>T | GRCh38 |
| NC_000002.11:g.179468588C>T , CM000664.1:g.179468588C>T | GRCh37 |
| NC_000002.10:g.179176833C>T | NCBI36 |
| NG_011618.3:g.231942G>A , LRG_391:g.231942G>A | |
| NG_051363.1:g.86035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47107+15G>A (TTN) | ENSP00000343764.6:n.47107+15G>A | |
| ENST00000342175.11:c.28192+15G>A (TTN) | ENSP00000340554.6:n.28192+15G>A | |
| ENST00000359218.10:c.27991+15G>A (TTN) | ENSP00000352154.5:n.27991+15G>A | |
| ENST00000342175.10:c.28192+15G>A (TTN) | ENSP00000340554.6:n.28192+15G>A | |
| ENST00000342992.10:c.47107+15G>A (TTN) | ENSP00000343764.6:n.47107+15G>A | |
| ENST00000359218.9:c.27991+15G>A (TTN) | ENSP00000352154.5:n.27991+15G>A | |
| ENST00000460472.6:c.27616+15G>A (TTN) | ENSP00000434586.1:n.27616+15G>A | |
| ENST00000589042.5:c.54811+15G>A (TTN) MANE Select | ENSP00000467141.1:n.54811+15G>A | |
| ENST00000591111.5:c.49888+15G>A (TTN) | ENSP00000465570.1:n.49888+15G>A | |
| ENST00000615779.4:c.49888+15G>A (TTN) | ENSP00000483597.1:n.49888+15G>A | |
| NM_001256850.1:c.49888+15G>A (TTN) | NP_001243779.1:n.49888+15G>A | |
| NM_001267550.2:c.54811+15G>A (TTN) MANE Select | NP_001254479.2:n.54811+15G>A | |
| NM_003319.4:c.27616+15G>A (TTN) | NP_003310.4:n.27616+15G>A | |
| NM_133378.4:c.47107+15G>A (TTN) | NP_596869.4:n.47107+15G>A | |
| NM_133432.3:c.27991+15G>A (TTN) | NP_597676.3:n.27991+15G>A | |
| NM_133437.4:c.28192+15G>A (TTN) | NP_597681.4:n.28192+15G>A | |
| NR_038271.1:n.683-4306C>T (TTN-AS1) | ||
| NR_038272.1:n.3918-870C>T (TTN-AS1) | ||
| XM_011511729.1:c.53908+15G>A (TTN) | XP_011510031.1:n.53908+15G>A | |
| XM_011511730.1:c.27802+15G>A (TTN) | XP_011510032.1:n.27802+15G>A | |
| XM_011511731.1:c.27661+15G>A (TTN) | XP_011510033.1:n.27661+15G>A | |
| XM_017004819.1:c.53704+15G>A (TTN) | XP_016860308.1:n.53704+15G>A | |
| XM_017004820.1:c.49102+15G>A (TTN) | XP_016860309.1:n.49102+15G>A | |
| XM_017004821.1:c.49099+15G>A (TTN) | XP_016860310.1:n.49099+15G>A | |
| XM_017004822.1:c.46141+15G>A (TTN) | XP_016860311.1:n.46141+15G>A | |
| XM_017004823.1:c.27757+15G>A (TTN) | XP_016860312.1:n.27757+15G>A | |
| XM_024453094.1:c.49252+15G>A (TTN) | XP_024308862.1:n.49252+15G>A | |
| XM_024453095.1:c.49249+15G>A (TTN) | XP_024308863.1:n.49249+15G>A | |
| XM_024453096.1:c.48682+15G>A (TTN) | XP_024308864.1:n.48682+15G>A | |
| XM_024453097.1:c.46024+15G>A (TTN) | XP_024308865.1:n.46024+15G>A | |
| XM_024453098.1:c.45943+15G>A (TTN) | XP_024308866.1:n.45943+15G>A | |
| XM_024453099.1:c.27706+15G>A (TTN) | XP_024308867.1:n.27706+15G>A | |
| XM_024453100.1:c.17560+15G>A (TTN) | XP_024308868.1:n.17560+15G>A |