Linked Data
ClinVar Variation Id:
165933
ClinVar RCV Id:
RCV000152270
RCV000765563
RCV000474565
RCV000618262
RCV001704100
RCV003227676
RCV004532695
dbSNP Id:
rs727503588
ExAC:
2:179456705 G / A
gnomAD v2:
2-179456705-G-A
gnomAD v3:
2-178591978-G-A
gnomAD v4:
2-178591978-G-A
PubMed:
PMID:22335739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591978G>A , CM000664.2:g.178591978G>A | GRCh38 |
| NC_000002.11:g.179456705G>A , CM000664.1:g.179456705G>A | GRCh37 |
| NC_000002.10:g.179164951G>A | NCBI36 |
| NG_011618.3:g.243825C>T , LRG_391:g.243825C>T | |
| NG_051363.1:g.74152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52222C>T (TTN) | ENSP00000343764.6:p.His17408Tyr | |
| ENST00000342175.11:c.33307C>T (TTN) | ENSP00000340554.6:p.His11103Tyr | |
| ENST00000359218.10:c.33106C>T (TTN) | ENSP00000352154.5:p.His11036Tyr | |
| ENST00000342175.10:c.33307C>T (TTN) | ENSP00000340554.6:p.His11103Tyr | |
| ENST00000342992.10:c.52222C>T (TTN) | ENSP00000343764.6:p.His17408Tyr | |
| ENST00000359218.9:c.33106C>T (TTN) | ENSP00000352154.5:p.His11036Tyr | |
| ENST00000460472.6:c.32731C>T (TTN) | ENSP00000434586.1:p.His10911Tyr | |
| ENST00000589042.5:c.59926C>T (TTN) MANE Select | ENSP00000467141.1:p.His19976Tyr | |
| ENST00000591111.5:c.55003C>T (TTN) | ENSP00000465570.1:p.His18335Tyr | |
| ENST00000615779.4:c.55003C>T (TTN) | ENSP00000483597.1:p.His18335Tyr | |
| NM_001256850.1:c.55003C>T (TTN) | NP_001243779.1:p.His18335Tyr | |
| NM_001267550.2:c.59926C>T (TTN) MANE Select | NP_001254479.2:p.His19976Tyr | |
| NM_003319.4:c.32731C>T (TTN) | NP_003310.4:p.His10911Tyr | |
| NM_133378.4:c.52222C>T (TTN) | NP_596869.4:p.His17408Tyr | |
| NM_133432.3:c.33106C>T (TTN) | NP_597676.3:p.His11036Tyr | |
| NM_133437.4:c.33307C>T (TTN) | NP_597681.4:p.His11103Tyr | |
| NR_038271.1:n.597-5618G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+664G>A (TTN-AS1) | ||
| XM_011511729.1:c.59023C>T (TTN) | XP_011510031.1:p.His19675Tyr | |
| XM_011511730.1:c.32917C>T (TTN) | XP_011510032.1:p.His10973Tyr | |
| XM_011511731.1:c.32776C>T (TTN) | XP_011510033.1:p.His10926Tyr | |
| XM_017004819.1:c.58819C>T (TTN) | XP_016860308.1:p.His19607Tyr | |
| XM_017004820.1:c.54217C>T (TTN) | XP_016860309.1:p.His18073Tyr | |
| XM_017004821.1:c.54214C>T (TTN) | XP_016860310.1:p.His18072Tyr | |
| XM_017004822.1:c.51256C>T (TTN) | XP_016860311.1:p.His17086Tyr | |
| XM_017004823.1:c.32872C>T (TTN) | XP_016860312.1:p.His10958Tyr | |
| XM_024453094.1:c.54367C>T (TTN) | XP_024308862.1:p.His18123Tyr | |
| XM_024453095.1:c.54364C>T (TTN) | XP_024308863.1:p.His18122Tyr | |
| XM_024453096.1:c.53797C>T (TTN) | XP_024308864.1:p.His17933Tyr | |
| XM_024453097.1:c.51139C>T (TTN) | XP_024308865.1:p.His17047Tyr | |
| XM_024453098.1:c.51058C>T (TTN) | XP_024308866.1:p.His17020Tyr | |
| XM_024453099.1:c.32821C>T (TTN) | XP_024308867.1:p.His10941Tyr | |
| XM_024453100.1:c.22675C>T (TTN) | XP_024308868.1:p.His7559Tyr |