Linked Data
ClinVar Variation Id:
518935
ClinVar RCV Id:
RCV000620083
dbSNP Id:
rs373289373
ExAC:
2:179408644 T / C
gnomAD v2:
2-179408644-T-C
gnomAD v3:
2-178543917-T-C
gnomAD v4:
2-178543917-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543917T>C , CM000664.2:g.178543917T>C | GRCh38 |
| NC_000002.11:g.179408644T>C , CM000664.1:g.179408644T>C | GRCh37 |
| NC_000002.10:g.179116890T>C | NCBI36 |
| NG_011618.3:g.291886A>G , LRG_391:g.291886A>G | |
| NG_051363.1:g.26091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88523A>G (TTN) | ENSP00000343764.6:p.Asn29508Ser | |
| ENST00000342175.11:c.69608A>G (TTN) | ENSP00000340554.6:p.Asn23203Ser | |
| ENST00000359218.10:c.69407A>G (TTN) | ENSP00000352154.5:p.Asn23136Ser | |
| ENST00000342175.10:c.69608A>G (TTN) | ENSP00000340554.6:p.Asn23203Ser | |
| ENST00000342992.10:c.88523A>G (TTN) | ENSP00000343764.6:p.Asn29508Ser | |
| ENST00000359218.9:c.69407A>G (TTN) | ENSP00000352154.5:p.Asn23136Ser | |
| ENST00000460472.6:c.69032A>G (TTN) | ENSP00000434586.1:p.Asn23011Ser | |
| ENST00000589042.5:c.96227A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn32076Ser | |
| ENST00000591111.5:c.91304A>G (TTN) | ENSP00000465570.1:p.Asn30435Ser | |
| ENST00000615779.4:c.91304A>G (TTN) | ENSP00000483597.1:p.Asn30435Ser | |
| NM_001256850.1:c.91304A>G (TTN) | NP_001243779.1:p.Asn30435Ser | |
| NM_001267550.2:c.96227A>G (TTN) MANE Select | NP_001254479.2:p.Asn32076Ser | |
| NM_003319.4:c.69032A>G (TTN) | NP_003310.4:p.Asn23011Ser | |
| NM_133378.4:c.88523A>G (TTN) | NP_596869.4:p.Asn29508Ser | |
| NM_133432.3:c.69407A>G (TTN) | NP_597676.3:p.Asn23136Ser | |
| NM_133437.4:c.69608A>G (TTN) | NP_597681.4:p.Asn23203Ser | |
| NR_038271.1:n.446+20281T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+1556T>C (TTN-AS1) | ||
| XM_011511729.1:c.95324A>G (TTN) | XP_011510031.1:p.Asn31775Ser | |
| XM_011511730.1:c.69218A>G (TTN) | XP_011510032.1:p.Asn23073Ser | |
| XM_011511731.1:c.69077A>G (TTN) | XP_011510033.1:p.Asn23026Ser | |
| XM_017004819.1:c.95120A>G (TTN) | XP_016860308.1:p.Asn31707Ser | |
| XM_017004820.1:c.90518A>G (TTN) | XP_016860309.1:p.Asn30173Ser | |
| XM_017004821.1:c.90515A>G (TTN) | XP_016860310.1:p.Asn30172Ser | |
| XM_017004822.1:c.87557A>G (TTN) | XP_016860311.1:p.Asn29186Ser | |
| XM_017004823.1:c.69173A>G (TTN) | XP_016860312.1:p.Asn23058Ser | |
| XM_024453094.1:c.90668A>G (TTN) | XP_024308862.1:p.Asn30223Ser | |
| XM_024453095.1:c.90665A>G (TTN) | XP_024308863.1:p.Asn30222Ser | |
| XM_024453096.1:c.90098A>G (TTN) | XP_024308864.1:p.Asn30033Ser | |
| XM_024453097.1:c.87440A>G (TTN) | XP_024308865.1:p.Asn29147Ser | |
| XM_024453098.1:c.87359A>G (TTN) | XP_024308866.1:p.Asn29120Ser | |
| XM_024453099.1:c.69122A>G (TTN) | XP_024308867.1:p.Asn23041Ser | |
| XM_024453100.1:c.58976A>G (TTN) | XP_024308868.1:p.Asn19659Ser |