Linked Data
ClinVar Variation Id:
196643
ClinVar RCV Id:
RCV000725273
RCV001086077
RCV001134624
RCV001134621
RCV001134623
RCV002227933
RCV001134620
RCV001134622
RCV002362905
RCV004537431
dbSNP Id:
rs182683829
ExAC:
2:179403946 C / T
gnomAD v2:
2-179403946-C-T
gnomAD v3:
2-178539219-C-T
gnomAD v4:
2-178539219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539219C>T , CM000664.2:g.178539219C>T | GRCh38 |
| NC_000002.11:g.179403946C>T , CM000664.1:g.179403946C>T | GRCh37 |
| NC_000002.10:g.179112192C>T | NCBI36 |
| NG_011618.3:g.296584G>A , LRG_391:g.296584G>A | |
| NG_051363.1:g.21393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91012G>A (TTN) | ENSP00000343764.6:p.Val30338Ile | |
| ENST00000342175.11:c.72097G>A (TTN) | ENSP00000340554.6:p.Val24033Ile | |
| ENST00000359218.10:c.71896G>A (TTN) | ENSP00000352154.5:p.Val23966Ile | |
| ENST00000342175.10:c.72097G>A (TTN) | ENSP00000340554.6:p.Val24033Ile | |
| ENST00000342992.10:c.91012G>A (TTN) | ENSP00000343764.6:p.Val30338Ile | |
| ENST00000359218.9:c.71896G>A (TTN) | ENSP00000352154.5:p.Val23966Ile | |
| ENST00000460472.6:c.71521G>A (TTN) | ENSP00000434586.1:p.Val23841Ile | |
| ENST00000589042.5:c.98716G>A (TTN) MANE Select | ENSP00000467141.1:p.Val32906Ile | |
| ENST00000591111.5:c.93793G>A (TTN) | ENSP00000465570.1:p.Val31265Ile | |
| ENST00000615779.4:c.93793G>A (TTN) | ENSP00000483597.1:p.Val31265Ile | |
| NM_001256850.1:c.93793G>A (TTN) | NP_001243779.1:p.Val31265Ile | |
| NM_001267550.2:c.98716G>A (TTN) MANE Select | NP_001254479.2:p.Val32906Ile | |
| NM_003319.4:c.71521G>A (TTN) | NP_003310.4:p.Val23841Ile | |
| NM_133378.4:c.91012G>A (TTN) | NP_596869.4:p.Val30338Ile | |
| NM_133432.3:c.71896G>A (TTN) | NP_597676.3:p.Val23966Ile | |
| NM_133437.4:c.72097G>A (TTN) | NP_597681.4:p.Val24033Ile | |
| NR_038271.1:n.446+15583C>T (TTN-AS1) | ||
| NR_038272.1:n.1169C>T (TTN-AS1) | ||
| XM_011511729.1:c.97813G>A (TTN) | XP_011510031.1:p.Val32605Ile | |
| XM_011511730.1:c.71707G>A (TTN) | XP_011510032.1:p.Val23903Ile | |
| XM_011511731.1:c.71566G>A (TTN) | XP_011510033.1:p.Val23856Ile | |
| XM_017004819.1:c.97609G>A (TTN) | XP_016860308.1:p.Val32537Ile | |
| XM_017004820.1:c.93007G>A (TTN) | XP_016860309.1:p.Val31003Ile | |
| XM_017004821.1:c.93004G>A (TTN) | XP_016860310.1:p.Val31002Ile | |
| XM_017004822.1:c.90046G>A (TTN) | XP_016860311.1:p.Val30016Ile | |
| XM_017004823.1:c.71662G>A (TTN) | XP_016860312.1:p.Val23888Ile | |
| XM_024453094.1:c.93157G>A (TTN) | XP_024308862.1:p.Val31053Ile | |
| XM_024453095.1:c.93154G>A (TTN) | XP_024308863.1:p.Val31052Ile | |
| XM_024453096.1:c.92587G>A (TTN) | XP_024308864.1:p.Val30863Ile | |
| XM_024453097.1:c.89929G>A (TTN) | XP_024308865.1:p.Val29977Ile | |
| XM_024453098.1:c.89848G>A (TTN) | XP_024308866.1:p.Val29950Ile | |
| XM_024453099.1:c.71611G>A (TTN) | XP_024308867.1:p.Val23871Ile | |
| XM_024453100.1:c.61465G>A (TTN) | XP_024308868.1:p.Val20489Ile |