Linked Data
ClinVar Variation Id:
179038
ClinVar RCV Id:
RCV000155822
RCV000172198
RCV000286331
RCV000282938
RCV000380708
RCV000322760
RCV000377371
RCV000466689
RCV002362824
dbSNP Id:
rs200476500
ExAC:
2:179413547 C / T
gnomAD v2:
2-179413547-C-T
gnomAD v3:
2-178548820-C-T
gnomAD v4:
2-178548820-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548820C>T , CM000664.2:g.178548820C>T | GRCh38 |
| NC_000002.11:g.179413547C>T , CM000664.1:g.179413547C>T | GRCh37 |
| NC_000002.10:g.179121793C>T | NCBI36 |
| NG_011618.3:g.286983G>A , LRG_391:g.286983G>A | |
| NG_051363.1:g.30994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85102G>A (TTN) | ENSP00000343764.6:p.Val28368Ile | |
| ENST00000342175.11:c.66187G>A (TTN) | ENSP00000340554.6:p.Val22063Ile | |
| ENST00000359218.10:c.65986G>A (TTN) | ENSP00000352154.5:p.Val21996Ile | |
| ENST00000342175.10:c.66187G>A (TTN) | ENSP00000340554.6:p.Val22063Ile | |
| ENST00000342992.10:c.85102G>A (TTN) | ENSP00000343764.6:p.Val28368Ile | |
| ENST00000359218.9:c.65986G>A (TTN) | ENSP00000352154.5:p.Val21996Ile | |
| ENST00000460472.6:c.65611G>A (TTN) | ENSP00000434586.1:p.Val21871Ile | |
| ENST00000589042.5:c.92806G>A (TTN) MANE Select | ENSP00000467141.1:p.Val30936Ile | |
| ENST00000591111.5:c.87883G>A (TTN) | ENSP00000465570.1:p.Val29295Ile | |
| ENST00000615779.4:c.87883G>A (TTN) | ENSP00000483597.1:p.Val29295Ile | |
| NM_001256850.1:c.87883G>A (TTN) | NP_001243779.1:p.Val29295Ile | |
| NM_001267550.2:c.92806G>A (TTN) MANE Select | NP_001254479.2:p.Val30936Ile | |
| NM_003319.4:c.65611G>A (TTN) | NP_003310.4:p.Val21871Ile | |
| NM_133378.4:c.85102G>A (TTN) | NP_596869.4:p.Val28368Ile | |
| NM_133432.3:c.65986G>A (TTN) | NP_597676.3:p.Val21996Ile | |
| NM_133437.4:c.66187G>A (TTN) | NP_597681.4:p.Val22063Ile | |
| NR_038271.1:n.447-22480C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6459C>T (TTN-AS1) | ||
| XM_011511729.1:c.91903G>A (TTN) | XP_011510031.1:p.Val30635Ile | |
| XM_011511730.1:c.65797G>A (TTN) | XP_011510032.1:p.Val21933Ile | |
| XM_011511731.1:c.65656G>A (TTN) | XP_011510033.1:p.Val21886Ile | |
| XM_017004819.1:c.91699G>A (TTN) | XP_016860308.1:p.Val30567Ile | |
| XM_017004820.1:c.87097G>A (TTN) | XP_016860309.1:p.Val29033Ile | |
| XM_017004821.1:c.87094G>A (TTN) | XP_016860310.1:p.Val29032Ile | |
| XM_017004822.1:c.84136G>A (TTN) | XP_016860311.1:p.Val28046Ile | |
| XM_017004823.1:c.65752G>A (TTN) | XP_016860312.1:p.Val21918Ile | |
| XM_024453094.1:c.87247G>A (TTN) | XP_024308862.1:p.Val29083Ile | |
| XM_024453095.1:c.87244G>A (TTN) | XP_024308863.1:p.Val29082Ile | |
| XM_024453096.1:c.86677G>A (TTN) | XP_024308864.1:p.Val28893Ile | |
| XM_024453097.1:c.84019G>A (TTN) | XP_024308865.1:p.Val28007Ile | |
| XM_024453098.1:c.83938G>A (TTN) | XP_024308866.1:p.Val27980Ile | |
| XM_024453099.1:c.65701G>A (TTN) | XP_024308867.1:p.Val21901Ile | |
| XM_024453100.1:c.55555G>A (TTN) | XP_024308868.1:p.Val18519Ile |