Linked Data
ClinVar Variation Id:
191804
dbSNP Id:
rs142336788
ExAC:
2:179393148 T / C
gnomAD v2:
2-179393148-T-C
gnomAD v3:
2-178528421-T-C
gnomAD v4:
2-178528421-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528421T>C , CM000664.2:g.178528421T>C | GRCh38 |
| NC_000002.11:g.179393148T>C , CM000664.1:g.179393148T>C | GRCh37 |
| NC_000002.10:g.179101394T>C | NCBI36 |
| NG_011618.3:g.307382A>G , LRG_391:g.307382A>G | |
| NG_051363.1:g.10595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99526A>G (TTN) | ENSP00000343764.6:p.Ile33176Val | |
| ENST00000342175.11:c.80611A>G (TTN) | ENSP00000340554.6:p.Ile26871Val | |
| ENST00000359218.10:c.80410A>G (TTN) | ENSP00000352154.5:p.Ile26804Val | |
| ENST00000342175.10:c.80611A>G (TTN) | ENSP00000340554.6:p.Ile26871Val | |
| ENST00000342992.10:c.99526A>G (TTN) | ENSP00000343764.6:p.Ile33176Val | |
| ENST00000359218.9:c.80410A>G (TTN) | ENSP00000352154.5:p.Ile26804Val | |
| ENST00000460472.6:c.80035A>G (TTN) | ENSP00000434586.1:p.Ile26679Val | |
| ENST00000589042.5:c.107230A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile35744Val | |
| ENST00000591111.5:c.102307A>G (TTN) | ENSP00000465570.1:p.Ile34103Val | |
| ENST00000615779.4:c.102307A>G (TTN) | ENSP00000483597.1:p.Ile34103Val | |
| NM_001256850.1:c.102307A>G (TTN) | NP_001243779.1:p.Ile34103Val | |
| NM_001267550.2:c.107230A>G (TTN) MANE Select | NP_001254479.2:p.Ile35744Val | |
| NM_003319.4:c.80035A>G (TTN) | NP_003310.4:p.Ile26679Val | |
| NM_133378.4:c.99526A>G (TTN) | NP_596869.4:p.Ile33176Val | |
| NM_133432.3:c.80410A>G (TTN) | NP_597676.3:p.Ile26804Val | |
| NM_133437.4:c.80611A>G (TTN) | NP_597681.4:p.Ile26871Val | |
| NR_038271.1:n.446+4785T>C (TTN-AS1) | ||
| NR_038272.1:n.219+4785T>C (TTN-AS1) | ||
| XM_011511729.1:c.106327A>G (TTN) | XP_011510031.1:p.Ile35443Val | |
| XM_011511730.1:c.80221A>G (TTN) | XP_011510032.1:p.Ile26741Val | |
| XM_011511731.1:c.80080A>G (TTN) | XP_011510033.1:p.Ile26694Val | |
| XM_017004819.1:c.106123A>G (TTN) | XP_016860308.1:p.Ile35375Val | |
| XM_017004820.1:c.101521A>G (TTN) | XP_016860309.1:p.Ile33841Val | |
| XM_017004821.1:c.101518A>G (TTN) | XP_016860310.1:p.Ile33840Val | |
| XM_017004822.1:c.98560A>G (TTN) | XP_016860311.1:p.Ile32854Val | |
| XM_017004823.1:c.80176A>G (TTN) | XP_016860312.1:p.Ile26726Val | |
| XM_024453094.1:c.101671A>G (TTN) | XP_024308862.1:p.Ile33891Val | |
| XM_024453095.1:c.101668A>G (TTN) | XP_024308863.1:p.Ile33890Val | |
| XM_024453096.1:c.101101A>G (TTN) | XP_024308864.1:p.Ile33701Val | |
| XM_024453097.1:c.98443A>G (TTN) | XP_024308865.1:p.Ile32815Val | |
| XM_024453098.1:c.98362A>G (TTN) | XP_024308866.1:p.Ile32788Val | |
| XM_024453099.1:c.80125A>G (TTN) | XP_024308867.1:p.Ile26709Val | |
| XM_024453100.1:c.69979A>G (TTN) | XP_024308868.1:p.Ile23327Val |