Linked Data
ClinVar Variation Id:
229499
dbSNP Id:
rs200493270
ExAC:
2:179443592 T / C
gnomAD v2:
2-179443592-T-C
gnomAD v3:
2-178578865-T-C
gnomAD v4:
2-178578865-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578865T>C , CM000664.2:g.178578865T>C | GRCh38 |
| NC_000002.11:g.179443592T>C , CM000664.1:g.179443592T>C | GRCh37 |
| NC_000002.10:g.179151838T>C | NCBI36 |
| NG_011618.3:g.256938A>G , LRG_391:g.256938A>G | |
| NG_051363.1:g.61039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60461A>G (TTN) | ENSP00000343764.6:p.Asn20154Ser | |
| ENST00000342175.11:c.41546A>G (TTN) | ENSP00000340554.6:p.Asn13849Ser | |
| ENST00000359218.10:c.41345A>G (TTN) | ENSP00000352154.5:p.Asn13782Ser | |
| ENST00000342175.10:c.41546A>G (TTN) | ENSP00000340554.6:p.Asn13849Ser | |
| ENST00000342992.10:c.60461A>G (TTN) | ENSP00000343764.6:p.Asn20154Ser | |
| ENST00000359218.9:c.41345A>G (TTN) | ENSP00000352154.5:p.Asn13782Ser | |
| ENST00000460472.6:c.40970A>G (TTN) | ENSP00000434586.1:p.Asn13657Ser | |
| ENST00000589042.5:c.68165A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn22722Ser | |
| ENST00000591111.5:c.63242A>G (TTN) | ENSP00000465570.1:p.Asn21081Ser | |
| ENST00000615779.4:c.63242A>G (TTN) | ENSP00000483597.1:p.Asn21081Ser | |
| NM_001256850.1:c.63242A>G (TTN) | NP_001243779.1:p.Asn21081Ser | |
| NM_001267550.2:c.68165A>G (TTN) MANE Select | NP_001254479.2:p.Asn22722Ser | |
| NM_003319.4:c.40970A>G (TTN) | NP_003310.4:p.Asn13657Ser | |
| NM_133378.4:c.60461A>G (TTN) | NP_596869.4:p.Asn20154Ser | |
| NM_133432.3:c.41345A>G (TTN) | NP_597676.3:p.Asn13782Ser | |
| NM_133437.4:c.41546A>G (TTN) | NP_597681.4:p.Asn13849Ser | |
| NR_038271.1:n.596+7416T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-3707T>C (TTN-AS1) | ||
| XM_011511729.1:c.67262A>G (TTN) | XP_011510031.1:p.Asn22421Ser | |
| XM_011511730.1:c.41156A>G (TTN) | XP_011510032.1:p.Asn13719Ser | |
| XM_011511731.1:c.41015A>G (TTN) | XP_011510033.1:p.Asn13672Ser | |
| XM_017004819.1:c.67058A>G (TTN) | XP_016860308.1:p.Asn22353Ser | |
| XM_017004820.1:c.62456A>G (TTN) | XP_016860309.1:p.Asn20819Ser | |
| XM_017004821.1:c.62453A>G (TTN) | XP_016860310.1:p.Asn20818Ser | |
| XM_017004822.1:c.59495A>G (TTN) | XP_016860311.1:p.Asn19832Ser | |
| XM_017004823.1:c.41111A>G (TTN) | XP_016860312.1:p.Asn13704Ser | |
| XM_024453094.1:c.62606A>G (TTN) | XP_024308862.1:p.Asn20869Ser | |
| XM_024453095.1:c.62603A>G (TTN) | XP_024308863.1:p.Asn20868Ser | |
| XM_024453096.1:c.62036A>G (TTN) | XP_024308864.1:p.Asn20679Ser | |
| XM_024453097.1:c.59378A>G (TTN) | XP_024308865.1:p.Asn19793Ser | |
| XM_024453098.1:c.59297A>G (TTN) | XP_024308866.1:p.Asn19766Ser | |
| XM_024453099.1:c.41060A>G (TTN) | XP_024308867.1:p.Asn13687Ser | |
| XM_024453100.1:c.30914A>G (TTN) | XP_024308868.1:p.Asn10305Ser |