Linked Data
ClinVar Variation Id:
179686
dbSNP Id:
rs727505053
ExAC:
2:179426461 T / C
gnomAD v2:
2-179426461-T-C
gnomAD v3:
2-178561734-T-C
gnomAD v4:
2-178561734-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561734T>C , CM000664.2:g.178561734T>C | GRCh38 |
| NC_000002.11:g.179426461T>C , CM000664.1:g.179426461T>C | GRCh37 |
| NC_000002.10:g.179134707T>C | NCBI36 |
| NG_011618.3:g.274069A>G , LRG_391:g.274069A>G | |
| NG_051363.1:g.43908T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76694A>G (TTN) | ENSP00000343764.6:p.Asn25565Ser | |
| ENST00000342175.11:c.57779A>G (TTN) | ENSP00000340554.6:p.Asn19260Ser | |
| ENST00000359218.10:c.57578A>G (TTN) | ENSP00000352154.5:p.Asn19193Ser | |
| ENST00000342175.10:c.57779A>G (TTN) | ENSP00000340554.6:p.Asn19260Ser | |
| ENST00000342992.10:c.76694A>G (TTN) | ENSP00000343764.6:p.Asn25565Ser | |
| ENST00000359218.9:c.57578A>G (TTN) | ENSP00000352154.5:p.Asn19193Ser | |
| ENST00000460472.6:c.57203A>G (TTN) | ENSP00000434586.1:p.Asn19068Ser | |
| ENST00000589042.5:c.84398A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn28133Ser | |
| ENST00000591111.5:c.79475A>G (TTN) | ENSP00000465570.1:p.Asn26492Ser | |
| ENST00000615779.4:c.79475A>G (TTN) | ENSP00000483597.1:p.Asn26492Ser | |
| NM_001256850.1:c.79475A>G (TTN) | NP_001243779.1:p.Asn26492Ser | |
| NM_001267550.2:c.84398A>G (TTN) MANE Select | NP_001254479.2:p.Asn28133Ser | |
| NM_003319.4:c.57203A>G (TTN) | NP_003310.4:p.Asn19068Ser | |
| NM_133378.4:c.76694A>G (TTN) | NP_596869.4:p.Asn25565Ser | |
| NM_133432.3:c.57578A>G (TTN) | NP_597676.3:p.Asn19193Ser | |
| NM_133437.4:c.57779A>G (TTN) | NP_597681.4:p.Asn19260Ser | |
| NR_038271.1:n.447-9566T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+19373T>C (TTN-AS1) | ||
| XM_011511729.1:c.83495A>G (TTN) | XP_011510031.1:p.Asn27832Ser | |
| XM_011511730.1:c.57389A>G (TTN) | XP_011510032.1:p.Asn19130Ser | |
| XM_011511731.1:c.57248A>G (TTN) | XP_011510033.1:p.Asn19083Ser | |
| XM_017004819.1:c.83291A>G (TTN) | XP_016860308.1:p.Asn27764Ser | |
| XM_017004820.1:c.78689A>G (TTN) | XP_016860309.1:p.Asn26230Ser | |
| XM_017004821.1:c.78686A>G (TTN) | XP_016860310.1:p.Asn26229Ser | |
| XM_017004822.1:c.75728A>G (TTN) | XP_016860311.1:p.Asn25243Ser | |
| XM_017004823.1:c.57344A>G (TTN) | XP_016860312.1:p.Asn19115Ser | |
| XM_024453094.1:c.78839A>G (TTN) | XP_024308862.1:p.Asn26280Ser | |
| XM_024453095.1:c.78836A>G (TTN) | XP_024308863.1:p.Asn26279Ser | |
| XM_024453096.1:c.78269A>G (TTN) | XP_024308864.1:p.Asn26090Ser | |
| XM_024453097.1:c.75611A>G (TTN) | XP_024308865.1:p.Asn25204Ser | |
| XM_024453098.1:c.75530A>G (TTN) | XP_024308866.1:p.Asn25177Ser | |
| XM_024453099.1:c.57293A>G (TTN) | XP_024308867.1:p.Asn19098Ser | |
| XM_024453100.1:c.47147A>G (TTN) | XP_024308868.1:p.Asn15716Ser |