Linked Data
ClinVar Variation Id:
47548
ClinVar RCV Id:
RCV000040817
RCV000172188
RCV000268106
RCV000272165
RCV000325497
RCV000360898
RCV000382966
RCV001083436
dbSNP Id:
rs2288326
ExAC:
2:179410980 G / T
gnomAD v2:
2-179410980-G-T
gnomAD v3:
2-178546253-G-T
gnomAD v4:
2-178546253-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546253G>T , CM000664.2:g.178546253G>T | GRCh38 |
| NC_000002.11:g.179410980G>T , CM000664.1:g.179410980G>T | GRCh37 |
| NC_000002.10:g.179119226G>T | NCBI36 |
| NG_011618.3:g.289550C>A , LRG_391:g.289550C>A | |
| NG_051363.1:g.28427G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87374C>A (TTN) | ENSP00000343764.6:p.Ala29125Asp | |
| ENST00000342175.11:c.68459C>A (TTN) | ENSP00000340554.6:p.Ala22820Asp | |
| ENST00000359218.10:c.68258C>A (TTN) | ENSP00000352154.5:p.Ala22753Asp | |
| ENST00000342175.10:c.68459C>A (TTN) | ENSP00000340554.6:p.Ala22820Asp | |
| ENST00000342992.10:c.87374C>A (TTN) | ENSP00000343764.6:p.Ala29125Asp | |
| ENST00000359218.9:c.68258C>A (TTN) | ENSP00000352154.5:p.Ala22753Asp | |
| ENST00000460472.6:c.67883C>A (TTN) | ENSP00000434586.1:p.Ala22628Asp | |
| ENST00000589042.5:c.95078C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala31693Asp | |
| ENST00000591111.5:c.90155C>A (TTN) | ENSP00000465570.1:p.Ala30052Asp | |
| ENST00000615779.4:c.90155C>A (TTN) | ENSP00000483597.1:p.Ala30052Asp | |
| NM_001256850.1:c.90155C>A (TTN) | NP_001243779.1:p.Ala30052Asp | |
| NM_001267550.2:c.95078C>A (TTN) MANE Select | NP_001254479.2:p.Ala31693Asp | |
| NM_003319.4:c.67883C>A (TTN) | NP_003310.4:p.Ala22628Asp | |
| NM_133378.4:c.87374C>A (TTN) | NP_596869.4:p.Ala29125Asp | |
| NM_133432.3:c.68258C>A (TTN) | NP_597676.3:p.Ala22753Asp | |
| NM_133437.4:c.68459C>A (TTN) | NP_597681.4:p.Ala22820Asp | |
| NR_038271.1:n.446+22617G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3892G>T (TTN-AS1) | ||
| XM_011511729.1:c.94175C>A (TTN) | XP_011510031.1:p.Ala31392Asp | |
| XM_011511730.1:c.68069C>A (TTN) | XP_011510032.1:p.Ala22690Asp | |
| XM_011511731.1:c.67928C>A (TTN) | XP_011510033.1:p.Ala22643Asp | |
| XM_017004819.1:c.93971C>A (TTN) | XP_016860308.1:p.Ala31324Asp | |
| XM_017004820.1:c.89369C>A (TTN) | XP_016860309.1:p.Ala29790Asp | |
| XM_017004821.1:c.89366C>A (TTN) | XP_016860310.1:p.Ala29789Asp | |
| XM_017004822.1:c.86408C>A (TTN) | XP_016860311.1:p.Ala28803Asp | |
| XM_017004823.1:c.68024C>A (TTN) | XP_016860312.1:p.Ala22675Asp | |
| XM_024453094.1:c.89519C>A (TTN) | XP_024308862.1:p.Ala29840Asp | |
| XM_024453095.1:c.89516C>A (TTN) | XP_024308863.1:p.Ala29839Asp | |
| XM_024453096.1:c.88949C>A (TTN) | XP_024308864.1:p.Ala29650Asp | |
| XM_024453097.1:c.86291C>A (TTN) | XP_024308865.1:p.Ala28764Asp | |
| XM_024453098.1:c.86210C>A (TTN) | XP_024308866.1:p.Ala28737Asp | |
| XM_024453099.1:c.67973C>A (TTN) | XP_024308867.1:p.Ala22658Asp | |
| XM_024453100.1:c.57827C>A (TTN) | XP_024308868.1:p.Ala19276Asp |