Linked Data
ClinVar Variation Id:
47172
dbSNP Id:
rs147580753
ExAC:
2:179455130 T / C
gnomAD v2:
2-179455130-T-C
gnomAD v3:
2-178590403-T-C
gnomAD v4:
2-178590403-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590403T>C , CM000664.2:g.178590403T>C | GRCh38 |
| NC_000002.11:g.179455130T>C , CM000664.1:g.179455130T>C | GRCh37 |
| NC_000002.10:g.179163376T>C | NCBI36 |
| NG_011618.3:g.245400A>G , LRG_391:g.245400A>G | |
| NG_051363.1:g.72577T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53618A>G (TTN) | ENSP00000343764.6:p.Asn17873Ser | |
| ENST00000342175.11:c.34703A>G (TTN) | ENSP00000340554.6:p.Asn11568Ser | |
| ENST00000359218.10:c.34502A>G (TTN) | ENSP00000352154.5:p.Asn11501Ser | |
| ENST00000342175.10:c.34703A>G (TTN) | ENSP00000340554.6:p.Asn11568Ser | |
| ENST00000342992.10:c.53618A>G (TTN) | ENSP00000343764.6:p.Asn17873Ser | |
| ENST00000359218.9:c.34502A>G (TTN) | ENSP00000352154.5:p.Asn11501Ser | |
| ENST00000460472.6:c.34127A>G (TTN) | ENSP00000434586.1:p.Asn11376Ser | |
| ENST00000589042.5:c.61322A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn20441Ser | |
| ENST00000591111.5:c.56399A>G (TTN) | ENSP00000465570.1:p.Asn18800Ser | |
| ENST00000615779.4:c.56399A>G (TTN) | ENSP00000483597.1:p.Asn18800Ser | |
| NM_001256850.1:c.56399A>G (TTN) | NP_001243779.1:p.Asn18800Ser | |
| NM_001267550.2:c.61322A>G (TTN) MANE Select | NP_001254479.2:p.Asn20441Ser | |
| NM_003319.4:c.34127A>G (TTN) | NP_003310.4:p.Asn11376Ser | |
| NM_133378.4:c.53618A>G (TTN) | NP_596869.4:p.Asn17873Ser | |
| NM_133432.3:c.34502A>G (TTN) | NP_597676.3:p.Asn11501Ser | |
| NM_133437.4:c.34703A>G (TTN) | NP_597681.4:p.Asn11568Ser | |
| NR_038271.1:n.597-7193T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-736T>C (TTN-AS1) | ||
| XM_011511729.1:c.60419A>G (TTN) | XP_011510031.1:p.Asn20140Ser | |
| XM_011511730.1:c.34313A>G (TTN) | XP_011510032.1:p.Asn11438Ser | |
| XM_011511731.1:c.34172A>G (TTN) | XP_011510033.1:p.Asn11391Ser | |
| XM_017004819.1:c.60215A>G (TTN) | XP_016860308.1:p.Asn20072Ser | |
| XM_017004820.1:c.55613A>G (TTN) | XP_016860309.1:p.Asn18538Ser | |
| XM_017004821.1:c.55610A>G (TTN) | XP_016860310.1:p.Asn18537Ser | |
| XM_017004822.1:c.52652A>G (TTN) | XP_016860311.1:p.Asn17551Ser | |
| XM_017004823.1:c.34268A>G (TTN) | XP_016860312.1:p.Asn11423Ser | |
| XM_024453094.1:c.55763A>G (TTN) | XP_024308862.1:p.Asn18588Ser | |
| XM_024453095.1:c.55760A>G (TTN) | XP_024308863.1:p.Asn18587Ser | |
| XM_024453096.1:c.55193A>G (TTN) | XP_024308864.1:p.Asn18398Ser | |
| XM_024453097.1:c.52535A>G (TTN) | XP_024308865.1:p.Asn17512Ser | |
| XM_024453098.1:c.52454A>G (TTN) | XP_024308866.1:p.Asn17485Ser | |
| XM_024453099.1:c.34217A>G (TTN) | XP_024308867.1:p.Asn11406Ser | |
| XM_024453100.1:c.24071A>G (TTN) | XP_024308868.1:p.Asn8024Ser |