Linked Data
ClinVar Variation Id:
191850
ClinVar RCV Id:
RCV000172192
RCV000435407
RCV000620023
RCV001083580
RCV001132111
RCV001132113
RCV001133035
RCV001132112
RCV001133036
dbSNP Id:
rs184078016
ExAC:
2:179412337 G / A
gnomAD v2:
2-179412337-G-A
gnomAD v3:
2-178547610-G-A
gnomAD v4:
2-178547610-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547610G>A , CM000664.2:g.178547610G>A | GRCh38 |
| NC_000002.11:g.179412337G>A , CM000664.1:g.179412337G>A | GRCh37 |
| NC_000002.10:g.179120583G>A | NCBI36 |
| NG_011618.3:g.288193C>T , LRG_391:g.288193C>T | |
| NG_051363.1:g.29784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86312C>T (TTN) | ENSP00000343764.6:p.Thr28771Ile | |
| ENST00000342175.11:c.67397C>T (TTN) | ENSP00000340554.6:p.Thr22466Ile | |
| ENST00000359218.10:c.67196C>T (TTN) | ENSP00000352154.5:p.Thr22399Ile | |
| ENST00000342175.10:c.67397C>T (TTN) | ENSP00000340554.6:p.Thr22466Ile | |
| ENST00000342992.10:c.86312C>T (TTN) | ENSP00000343764.6:p.Thr28771Ile | |
| ENST00000359218.9:c.67196C>T (TTN) | ENSP00000352154.5:p.Thr22399Ile | |
| ENST00000460472.6:c.66821C>T (TTN) | ENSP00000434586.1:p.Thr22274Ile | |
| ENST00000589042.5:c.94016C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr31339Ile | |
| ENST00000591111.5:c.89093C>T (TTN) | ENSP00000465570.1:p.Thr29698Ile | |
| ENST00000615779.4:c.89093C>T (TTN) | ENSP00000483597.1:p.Thr29698Ile | |
| NM_001256850.1:c.89093C>T (TTN) | NP_001243779.1:p.Thr29698Ile | |
| NM_001267550.2:c.94016C>T (TTN) MANE Select | NP_001254479.2:p.Thr31339Ile | |
| NM_003319.4:c.66821C>T (TTN) | NP_003310.4:p.Thr22274Ile | |
| NM_133378.4:c.86312C>T (TTN) | NP_596869.4:p.Thr28771Ile | |
| NM_133432.3:c.67196C>T (TTN) | NP_597676.3:p.Thr22399Ile | |
| NM_133437.4:c.67397C>T (TTN) | NP_597681.4:p.Thr22466Ile | |
| NR_038271.1:n.447-23690G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+5249G>A (TTN-AS1) | ||
| XM_011511729.1:c.93113C>T (TTN) | XP_011510031.1:p.Thr31038Ile | |
| XM_011511730.1:c.67007C>T (TTN) | XP_011510032.1:p.Thr22336Ile | |
| XM_011511731.1:c.66866C>T (TTN) | XP_011510033.1:p.Thr22289Ile | |
| XM_017004819.1:c.92909C>T (TTN) | XP_016860308.1:p.Thr30970Ile | |
| XM_017004820.1:c.88307C>T (TTN) | XP_016860309.1:p.Thr29436Ile | |
| XM_017004821.1:c.88304C>T (TTN) | XP_016860310.1:p.Thr29435Ile | |
| XM_017004822.1:c.85346C>T (TTN) | XP_016860311.1:p.Thr28449Ile | |
| XM_017004823.1:c.66962C>T (TTN) | XP_016860312.1:p.Thr22321Ile | |
| XM_024453094.1:c.88457C>T (TTN) | XP_024308862.1:p.Thr29486Ile | |
| XM_024453095.1:c.88454C>T (TTN) | XP_024308863.1:p.Thr29485Ile | |
| XM_024453096.1:c.87887C>T (TTN) | XP_024308864.1:p.Thr29296Ile | |
| XM_024453097.1:c.85229C>T (TTN) | XP_024308865.1:p.Thr28410Ile | |
| XM_024453098.1:c.85148C>T (TTN) | XP_024308866.1:p.Thr28383Ile | |
| XM_024453099.1:c.66911C>T (TTN) | XP_024308867.1:p.Thr22304Ile | |
| XM_024453100.1:c.56765C>T (TTN) | XP_024308868.1:p.Thr18922Ile |