Linked Data
ClinVar Variation Id:
46573
dbSNP Id:
rs193212275
ExAC:
2:179391962 C / T
gnomAD v2:
2-179391962-C-T
gnomAD v3:
2-178527235-C-T
gnomAD v4:
2-178527235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527235C>T , CM000664.2:g.178527235C>T | GRCh38 |
| NC_000002.11:g.179391962C>T , CM000664.1:g.179391962C>T | GRCh37 |
| NC_000002.10:g.179100208C>T | NCBI36 |
| NG_011618.3:g.308568G>A , LRG_391:g.308568G>A | |
| NG_051363.1:g.9409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100049G>A (TTN) | ENSP00000343764.6:p.Cys33350Tyr | |
| ENST00000342175.11:c.81134G>A (TTN) | ENSP00000340554.6:p.Cys27045Tyr | |
| ENST00000359218.10:c.80933G>A (TTN) | ENSP00000352154.5:p.Cys26978Tyr | |
| ENST00000342175.10:c.81134G>A (TTN) | ENSP00000340554.6:p.Cys27045Tyr | |
| ENST00000342992.10:c.100049G>A (TTN) | ENSP00000343764.6:p.Cys33350Tyr | |
| ENST00000359218.9:c.80933G>A (TTN) | ENSP00000352154.5:p.Cys26978Tyr | |
| ENST00000460472.6:c.80558G>A (TTN) | ENSP00000434586.1:p.Cys26853Tyr | |
| ENST00000589042.5:c.107753G>A (TTN) MANE Select | ENSP00000467141.1:p.Cys35918Tyr | |
| ENST00000591111.5:c.102830G>A (TTN) | ENSP00000465570.1:p.Cys34277Tyr | |
| ENST00000615779.4:c.102830G>A (TTN) | ENSP00000483597.1:p.Cys34277Tyr | |
| NM_001256850.1:c.102830G>A (TTN) | NP_001243779.1:p.Cys34277Tyr | |
| NM_001267550.2:c.107753G>A (TTN) MANE Select | NP_001254479.2:p.Cys35918Tyr | |
| NM_003319.4:c.80558G>A (TTN) | NP_003310.4:p.Cys26853Tyr | |
| NM_133378.4:c.100049G>A (TTN) | NP_596869.4:p.Cys33350Tyr | |
| NM_133432.3:c.80933G>A (TTN) | NP_597676.3:p.Cys26978Tyr | |
| NM_133437.4:c.81134G>A (TTN) | NP_597681.4:p.Cys27045Tyr | |
| NR_038271.1:n.446+3599C>T (TTN-AS1) | ||
| NR_038272.1:n.219+3599C>T (TTN-AS1) | ||
| XM_011511729.1:c.106850G>A (TTN) | XP_011510031.1:p.Cys35617Tyr | |
| XM_011511730.1:c.80744G>A (TTN) | XP_011510032.1:p.Cys26915Tyr | |
| XM_011511731.1:c.80603G>A (TTN) | XP_011510033.1:p.Cys26868Tyr | |
| XM_017004819.1:c.106646G>A (TTN) | XP_016860308.1:p.Cys35549Tyr | |
| XM_017004820.1:c.102044G>A (TTN) | XP_016860309.1:p.Cys34015Tyr | |
| XM_017004821.1:c.102041G>A (TTN) | XP_016860310.1:p.Cys34014Tyr | |
| XM_017004822.1:c.99083G>A (TTN) | XP_016860311.1:p.Cys33028Tyr | |
| XM_017004823.1:c.80699G>A (TTN) | XP_016860312.1:p.Cys26900Tyr | |
| XM_024453094.1:c.102194G>A (TTN) | XP_024308862.1:p.Cys34065Tyr | |
| XM_024453095.1:c.102191G>A (TTN) | XP_024308863.1:p.Cys34064Tyr | |
| XM_024453096.1:c.101624G>A (TTN) | XP_024308864.1:p.Cys33875Tyr | |
| XM_024453097.1:c.98966G>A (TTN) | XP_024308865.1:p.Cys32989Tyr | |
| XM_024453098.1:c.98885G>A (TTN) | XP_024308866.1:p.Cys32962Tyr | |
| XM_024453099.1:c.80648G>A (TTN) | XP_024308867.1:p.Cys26883Tyr | |
| XM_024453100.1:c.70502G>A (TTN) | XP_024308868.1:p.Cys23501Tyr |