Linked Data
ClinVar Variation Id:
413198
dbSNP Id:
rs749312983
ExAC:
2:179472154 A / G
gnomAD v2:
2-179472154-A-G
gnomAD v3:
2-178607427-A-G
gnomAD v4:
2-178607427-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607427A>G , CM000664.2:g.178607427A>G | GRCh38 |
| NC_000002.11:g.179472154A>G , CM000664.1:g.179472154A>G | GRCh37 |
| NC_000002.10:g.179180399A>G | NCBI36 |
| NG_011618.3:g.228376T>C , LRG_391:g.228376T>C | |
| NG_051363.1:g.89601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45557T>C (TTN) | ENSP00000343764.6:p.Phe15186Ser | |
| ENST00000342175.11:c.26642T>C (TTN) | ENSP00000340554.6:p.Phe8881Ser | |
| ENST00000359218.10:c.26441T>C (TTN) | ENSP00000352154.5:p.Phe8814Ser | |
| ENST00000342175.10:c.26642T>C (TTN) | ENSP00000340554.6:p.Phe8881Ser | |
| ENST00000342992.10:c.45557T>C (TTN) | ENSP00000343764.6:p.Phe15186Ser | |
| ENST00000359218.9:c.26441T>C (TTN) | ENSP00000352154.5:p.Phe8814Ser | |
| ENST00000460472.6:c.26066T>C (TTN) | ENSP00000434586.1:p.Phe8689Ser | |
| ENST00000589042.5:c.53261T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe17754Ser | |
| ENST00000591111.5:c.48338T>C (TTN) | ENSP00000465570.1:p.Phe16113Ser | |
| ENST00000615779.4:c.48338T>C (TTN) | ENSP00000483597.1:p.Phe16113Ser | |
| NM_001256850.1:c.48338T>C (TTN) | NP_001243779.1:p.Phe16113Ser | |
| NM_001267550.2:c.53261T>C (TTN) MANE Select | NP_001254479.2:p.Phe17754Ser | |
| NM_003319.4:c.26066T>C (TTN) | NP_003310.4:p.Phe8689Ser | |
| NM_133378.4:c.45557T>C (TTN) | NP_596869.4:p.Phe15186Ser | |
| NM_133432.3:c.26441T>C (TTN) | NP_597676.3:p.Phe8814Ser | |
| NM_133437.4:c.26642T>C (TTN) | NP_597681.4:p.Phe8881Ser | |
| NR_038271.1:n.683-740A>G (TTN-AS1) | ||
| XM_011511729.1:c.52358T>C (TTN) | XP_011510031.1:p.Phe17453Ser | |
| XM_011511730.1:c.26252T>C (TTN) | XP_011510032.1:p.Phe8751Ser | |
| XM_011511731.1:c.26111T>C (TTN) | XP_011510033.1:p.Phe8704Ser | |
| XM_017004819.1:c.52154T>C (TTN) | XP_016860308.1:p.Phe17385Ser | |
| XM_017004820.1:c.47552T>C (TTN) | XP_016860309.1:p.Phe15851Ser | |
| XM_017004821.1:c.47549T>C (TTN) | XP_016860310.1:p.Phe15850Ser | |
| XM_017004822.1:c.44591T>C (TTN) | XP_016860311.1:p.Phe14864Ser | |
| XM_017004823.1:c.26207T>C (TTN) | XP_016860312.1:p.Phe8736Ser | |
| XM_024453094.1:c.47702T>C (TTN) | XP_024308862.1:p.Phe15901Ser | |
| XM_024453095.1:c.47699T>C (TTN) | XP_024308863.1:p.Phe15900Ser | |
| XM_024453096.1:c.47132T>C (TTN) | XP_024308864.1:p.Phe15711Ser | |
| XM_024453097.1:c.44474T>C (TTN) | XP_024308865.1:p.Phe14825Ser | |
| XM_024453098.1:c.44393T>C (TTN) | XP_024308866.1:p.Phe14798Ser | |
| XM_024453099.1:c.26156T>C (TTN) | XP_024308867.1:p.Phe8719Ser | |
| XM_024453100.1:c.16010T>C (TTN) | XP_024308868.1:p.Phe5337Ser |