Linked Data
ClinVar Variation Id:
202909
dbSNP Id:
rs529055709
ExAC:
2:179429101 T / C
gnomAD v2:
2-179429101-T-C
gnomAD v3:
2-178564374-T-C
gnomAD v4:
2-178564374-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564374T>C , CM000664.2:g.178564374T>C | GRCh38 |
| NC_000002.11:g.179429101T>C , CM000664.1:g.179429101T>C | GRCh37 |
| NC_000002.10:g.179137347T>C | NCBI36 |
| NG_011618.3:g.271429A>G , LRG_391:g.271429A>G | |
| NG_051363.1:g.46548T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74054A>G (TTN) | ENSP00000343764.6:p.Asn24685Ser | |
| ENST00000342175.11:c.55139A>G (TTN) | ENSP00000340554.6:p.Asn18380Ser | |
| ENST00000359218.10:c.54938A>G (TTN) | ENSP00000352154.5:p.Asn18313Ser | |
| ENST00000342175.10:c.55139A>G (TTN) | ENSP00000340554.6:p.Asn18380Ser | |
| ENST00000342992.10:c.74054A>G (TTN) | ENSP00000343764.6:p.Asn24685Ser | |
| ENST00000359218.9:c.54938A>G (TTN) | ENSP00000352154.5:p.Asn18313Ser | |
| ENST00000460472.6:c.54563A>G (TTN) | ENSP00000434586.1:p.Asn18188Ser | |
| ENST00000589042.5:c.81758A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn27253Ser | |
| ENST00000591111.5:c.76835A>G (TTN) | ENSP00000465570.1:p.Asn25612Ser | |
| ENST00000615779.4:c.76835A>G (TTN) | ENSP00000483597.1:p.Asn25612Ser | |
| NM_001256850.1:c.76835A>G (TTN) | NP_001243779.1:p.Asn25612Ser | |
| NM_001267550.2:c.81758A>G (TTN) MANE Select | NP_001254479.2:p.Asn27253Ser | |
| NM_003319.4:c.54563A>G (TTN) | NP_003310.4:p.Asn18188Ser | |
| NM_133378.4:c.74054A>G (TTN) | NP_596869.4:p.Asn24685Ser | |
| NM_133432.3:c.54938A>G (TTN) | NP_597676.3:p.Asn18313Ser | |
| NM_133437.4:c.55139A>G (TTN) | NP_597681.4:p.Asn18380Ser | |
| NR_038271.1:n.447-6926T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-18198T>C (TTN-AS1) | ||
| XM_011511729.1:c.80855A>G (TTN) | XP_011510031.1:p.Asn26952Ser | |
| XM_011511730.1:c.54749A>G (TTN) | XP_011510032.1:p.Asn18250Ser | |
| XM_011511731.1:c.54608A>G (TTN) | XP_011510033.1:p.Asn18203Ser | |
| XM_017004819.1:c.80651A>G (TTN) | XP_016860308.1:p.Asn26884Ser | |
| XM_017004820.1:c.76049A>G (TTN) | XP_016860309.1:p.Asn25350Ser | |
| XM_017004821.1:c.76046A>G (TTN) | XP_016860310.1:p.Asn25349Ser | |
| XM_017004822.1:c.73088A>G (TTN) | XP_016860311.1:p.Asn24363Ser | |
| XM_017004823.1:c.54704A>G (TTN) | XP_016860312.1:p.Asn18235Ser | |
| XM_024453094.1:c.76199A>G (TTN) | XP_024308862.1:p.Asn25400Ser | |
| XM_024453095.1:c.76196A>G (TTN) | XP_024308863.1:p.Asn25399Ser | |
| XM_024453096.1:c.75629A>G (TTN) | XP_024308864.1:p.Asn25210Ser | |
| XM_024453097.1:c.72971A>G (TTN) | XP_024308865.1:p.Asn24324Ser | |
| XM_024453098.1:c.72890A>G (TTN) | XP_024308866.1:p.Asn24297Ser | |
| XM_024453099.1:c.54653A>G (TTN) | XP_024308867.1:p.Asn18218Ser | |
| XM_024453100.1:c.44507A>G (TTN) | XP_024308868.1:p.Asn14836Ser |