Linked Data
ClinVar Variation Id:
1394513
ClinVar RCV Id:
RCV001884827
dbSNP Id:
rs1423470146
gnomAD v4:
2-178530047-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530047T>A , CM000664.2:g.178530047T>A | GRCh38 |
| NC_000002.11:g.179394774T>A , CM000664.1:g.179394774T>A | GRCh37 |
| NC_000002.10:g.179103020T>A | NCBI36 |
| NG_011618.3:g.305756A>T , LRG_391:g.305756A>T | |
| NG_051363.1:g.12221T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98740A>T (TTN) | ENSP00000343764.6:p.Thr32914Ser | |
| ENST00000342175.11:c.79825A>T (TTN) | ENSP00000340554.6:p.Thr26609Ser | |
| ENST00000359218.10:c.79624A>T (TTN) | ENSP00000352154.5:p.Thr26542Ser | |
| ENST00000342175.10:c.79825A>T (TTN) | ENSP00000340554.6:p.Thr26609Ser | |
| ENST00000342992.10:c.98740A>T (TTN) | ENSP00000343764.6:p.Thr32914Ser | |
| ENST00000359218.9:c.79624A>T (TTN) | ENSP00000352154.5:p.Thr26542Ser | |
| ENST00000460472.6:c.79249A>T (TTN) | ENSP00000434586.1:p.Thr26417Ser | |
| ENST00000589042.5:c.106444A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35482Ser | |
| ENST00000591111.5:c.101521A>T (TTN) | ENSP00000465570.1:p.Thr33841Ser | |
| ENST00000615779.4:c.101521A>T (TTN) | ENSP00000483597.1:p.Thr33841Ser | |
| NM_001256850.1:c.101521A>T (TTN) | NP_001243779.1:p.Thr33841Ser | |
| NM_001267550.2:c.106444A>T (TTN) MANE Select | NP_001254479.2:p.Thr35482Ser | |
| NM_003319.4:c.79249A>T (TTN) | NP_003310.4:p.Thr26417Ser | |
| NM_133378.4:c.98740A>T (TTN) | NP_596869.4:p.Thr32914Ser | |
| NM_133432.3:c.79624A>T (TTN) | NP_597676.3:p.Thr26542Ser | |
| NM_133437.4:c.79825A>T (TTN) | NP_597681.4:p.Thr26609Ser | |
| NR_038271.1:n.446+6411T>A (TTN-AS1) | ||
| NR_038272.1:n.220-5685T>A (TTN-AS1) | ||
| XM_011511729.1:c.105541A>T (TTN) | XP_011510031.1:p.Thr35181Ser | |
| XM_011511730.1:c.79435A>T (TTN) | XP_011510032.1:p.Thr26479Ser | |
| XM_011511731.1:c.79294A>T (TTN) | XP_011510033.1:p.Thr26432Ser | |
| XM_017004819.1:c.105337A>T (TTN) | XP_016860308.1:p.Thr35113Ser | |
| XM_017004820.1:c.100735A>T (TTN) | XP_016860309.1:p.Thr33579Ser | |
| XM_017004821.1:c.100732A>T (TTN) | XP_016860310.1:p.Thr33578Ser | |
| XM_017004822.1:c.97774A>T (TTN) | XP_016860311.1:p.Thr32592Ser | |
| XM_017004823.1:c.79390A>T (TTN) | XP_016860312.1:p.Thr26464Ser | |
| XM_024453094.1:c.100885A>T (TTN) | XP_024308862.1:p.Thr33629Ser | |
| XM_024453095.1:c.100882A>T (TTN) | XP_024308863.1:p.Thr33628Ser | |
| XM_024453096.1:c.100315A>T (TTN) | XP_024308864.1:p.Thr33439Ser | |
| XM_024453097.1:c.97657A>T (TTN) | XP_024308865.1:p.Thr32553Ser | |
| XM_024453098.1:c.97576A>T (TTN) | XP_024308866.1:p.Thr32526Ser | |
| XM_024453099.1:c.79339A>T (TTN) | XP_024308867.1:p.Thr26447Ser | |
| XM_024453100.1:c.69193A>T (TTN) | XP_024308868.1:p.Thr23065Ser |