Linked Data
ClinVar Variation Id:
498614
dbSNP Id:
rs777505893
ExAC:
2:179468836 T / C
gnomAD v2:
2-179468836-T-C
gnomAD v3:
2-178604109-T-C
gnomAD v4:
2-178604109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604109T>C , CM000664.2:g.178604109T>C | GRCh38 |
| NC_000002.11:g.179468836T>C , CM000664.1:g.179468836T>C | GRCh37 |
| NC_000002.10:g.179177081T>C | NCBI36 |
| NG_011618.3:g.231694A>G , LRG_391:g.231694A>G | |
| NG_051363.1:g.86283T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46874A>G (TTN) | ENSP00000343764.6:p.Asn15625Ser | |
| ENST00000342175.11:c.27959A>G (TTN) | ENSP00000340554.6:p.Asn9320Ser | |
| ENST00000359218.10:c.27758A>G (TTN) | ENSP00000352154.5:p.Asn9253Ser | |
| ENST00000342175.10:c.27959A>G (TTN) | ENSP00000340554.6:p.Asn9320Ser | |
| ENST00000342992.10:c.46874A>G (TTN) | ENSP00000343764.6:p.Asn15625Ser | |
| ENST00000359218.9:c.27758A>G (TTN) | ENSP00000352154.5:p.Asn9253Ser | |
| ENST00000460472.6:c.27383A>G (TTN) | ENSP00000434586.1:p.Asn9128Ser | |
| ENST00000589042.5:c.54578A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn18193Ser | |
| ENST00000591111.5:c.49655A>G (TTN) | ENSP00000465570.1:p.Asn16552Ser | |
| ENST00000615779.4:c.49655A>G (TTN) | ENSP00000483597.1:p.Asn16552Ser | |
| NM_001256850.1:c.49655A>G (TTN) | NP_001243779.1:p.Asn16552Ser | |
| NM_001267550.2:c.54578A>G (TTN) MANE Select | NP_001254479.2:p.Asn18193Ser | |
| NM_003319.4:c.27383A>G (TTN) | NP_003310.4:p.Asn9128Ser | |
| NM_133378.4:c.46874A>G (TTN) | NP_596869.4:p.Asn15625Ser | |
| NM_133432.3:c.27758A>G (TTN) | NP_597676.3:p.Asn9253Ser | |
| NM_133437.4:c.27959A>G (TTN) | NP_597681.4:p.Asn9320Ser | |
| NR_038271.1:n.683-4058T>C (TTN-AS1) | ||
| NR_038272.1:n.3918-622T>C (TTN-AS1) | ||
| XM_011511729.1:c.53675A>G (TTN) | XP_011510031.1:p.Asn17892Ser | |
| XM_011511730.1:c.27569A>G (TTN) | XP_011510032.1:p.Asn9190Ser | |
| XM_011511731.1:c.27428A>G (TTN) | XP_011510033.1:p.Asn9143Ser | |
| XM_017004819.1:c.53471A>G (TTN) | XP_016860308.1:p.Asn17824Ser | |
| XM_017004820.1:c.48869A>G (TTN) | XP_016860309.1:p.Asn16290Ser | |
| XM_017004821.1:c.48866A>G (TTN) | XP_016860310.1:p.Asn16289Ser | |
| XM_017004822.1:c.45908A>G (TTN) | XP_016860311.1:p.Asn15303Ser | |
| XM_017004823.1:c.27524A>G (TTN) | XP_016860312.1:p.Asn9175Ser | |
| XM_024453094.1:c.49019A>G (TTN) | XP_024308862.1:p.Asn16340Ser | |
| XM_024453095.1:c.49016A>G (TTN) | XP_024308863.1:p.Asn16339Ser | |
| XM_024453096.1:c.48449A>G (TTN) | XP_024308864.1:p.Asn16150Ser | |
| XM_024453097.1:c.45791A>G (TTN) | XP_024308865.1:p.Asn15264Ser | |
| XM_024453098.1:c.45710A>G (TTN) | XP_024308866.1:p.Asn15237Ser | |
| XM_024453099.1:c.27473A>G (TTN) | XP_024308867.1:p.Asn9158Ser | |
| XM_024453100.1:c.17327A>G (TTN) | XP_024308868.1:p.Asn5776Ser |