Linked Data
ClinVar Variation Id:
332728
ClinVar RCV Id:
RCV000305866
RCV000307101
RCV000345585
RCV000395449
RCV000399321
RCV002057615
RCV003168502
dbSNP Id:
rs771773845
gnomAD v2:
2-179413899-G-A
gnomAD v3:
2-178549172-G-A
gnomAD v4:
2-178549172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549172G>A , CM000664.2:g.178549172G>A | GRCh38 |
| NC_000002.11:g.179413899G>A , CM000664.1:g.179413899G>A | GRCh37 |
| NC_000002.10:g.179122145G>A | NCBI36 |
| NG_011618.3:g.286631C>T , LRG_391:g.286631C>T | |
| NG_051363.1:g.31346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84750C>T (TTN) | ENSP00000343764.6:p.Pro28250= | |
| ENST00000342175.11:c.65835C>T (TTN) | ENSP00000340554.6:p.Pro21945= | |
| ENST00000359218.10:c.65634C>T (TTN) | ENSP00000352154.5:p.Pro21878= | |
| ENST00000342175.10:c.65835C>T (TTN) | ENSP00000340554.6:p.Pro21945= | |
| ENST00000342992.10:c.84750C>T (TTN) | ENSP00000343764.6:p.Pro28250= | |
| ENST00000359218.9:c.65634C>T (TTN) | ENSP00000352154.5:p.Pro21878= | |
| ENST00000460472.6:c.65259C>T (TTN) | ENSP00000434586.1:p.Pro21753= | |
| ENST00000589042.5:c.92454C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30818= | |
| ENST00000591111.5:c.87531C>T (TTN) | ENSP00000465570.1:p.Pro29177= | |
| ENST00000615779.4:c.87531C>T (TTN) | ENSP00000483597.1:p.Pro29177= | |
| NM_001256850.1:c.87531C>T (TTN) | NP_001243779.1:p.Pro29177= | |
| NM_001267550.2:c.92454C>T (TTN) MANE Select | NP_001254479.2:p.Pro30818= | |
| NM_003319.4:c.65259C>T (TTN) | NP_003310.4:p.Pro21753= | |
| NM_133378.4:c.84750C>T (TTN) | NP_596869.4:p.Pro28250= | |
| NM_133432.3:c.65634C>T (TTN) | NP_597676.3:p.Pro21878= | |
| NM_133437.4:c.65835C>T (TTN) | NP_597681.4:p.Pro21945= | |
| NR_038271.1:n.447-22128G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6811G>A (TTN-AS1) | ||
| XM_011511729.1:c.91551C>T (TTN) | XP_011510031.1:p.Pro30517= | |
| XM_011511730.1:c.65445C>T (TTN) | XP_011510032.1:p.Pro21815= | |
| XM_011511731.1:c.65304C>T (TTN) | XP_011510033.1:p.Pro21768= | |
| XM_017004819.1:c.91347C>T (TTN) | XP_016860308.1:p.Pro30449= | |
| XM_017004820.1:c.86745C>T (TTN) | XP_016860309.1:p.Pro28915= | |
| XM_017004821.1:c.86742C>T (TTN) | XP_016860310.1:p.Pro28914= | |
| XM_017004822.1:c.83784C>T (TTN) | XP_016860311.1:p.Pro27928= | |
| XM_017004823.1:c.65400C>T (TTN) | XP_016860312.1:p.Pro21800= | |
| XM_024453094.1:c.86895C>T (TTN) | XP_024308862.1:p.Pro28965= | |
| XM_024453095.1:c.86892C>T (TTN) | XP_024308863.1:p.Pro28964= | |
| XM_024453096.1:c.86325C>T (TTN) | XP_024308864.1:p.Pro28775= | |
| XM_024453097.1:c.83667C>T (TTN) | XP_024308865.1:p.Pro27889= | |
| XM_024453098.1:c.83586C>T (TTN) | XP_024308866.1:p.Pro27862= | |
| XM_024453099.1:c.65349C>T (TTN) | XP_024308867.1:p.Pro21783= | |
| XM_024453100.1:c.55203C>T (TTN) | XP_024308868.1:p.Pro18401= |