Linked Data
ClinVar Variation Id:
534990
dbSNP Id:
rs372075439
ExAC:
2:179442729 G / A
gnomAD v2:
2-179442729-G-A
gnomAD v3:
2-178578002-G-A
gnomAD v4:
2-178578002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578002G>A , CM000664.2:g.178578002G>A | GRCh38 |
| NC_000002.11:g.179442729G>A , CM000664.1:g.179442729G>A | GRCh37 |
| NC_000002.10:g.179150975G>A | NCBI36 |
| NG_011618.3:g.257801C>T , LRG_391:g.257801C>T | |
| NG_051363.1:g.60176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60809C>T (TTN) | ENSP00000343764.6:p.Ala20270Val | |
| ENST00000342175.11:c.41894C>T (TTN) | ENSP00000340554.6:p.Ala13965Val | |
| ENST00000359218.10:c.41693C>T (TTN) | ENSP00000352154.5:p.Ala13898Val | |
| ENST00000342175.10:c.41894C>T (TTN) | ENSP00000340554.6:p.Ala13965Val | |
| ENST00000342992.10:c.60809C>T (TTN) | ENSP00000343764.6:p.Ala20270Val | |
| ENST00000359218.9:c.41693C>T (TTN) | ENSP00000352154.5:p.Ala13898Val | |
| ENST00000460472.6:c.41318C>T (TTN) | ENSP00000434586.1:p.Ala13773Val | |
| ENST00000589042.5:c.68513C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala22838Val | |
| ENST00000591111.5:c.63590C>T (TTN) | ENSP00000465570.1:p.Ala21197Val | |
| ENST00000615779.4:c.63590C>T (TTN) | ENSP00000483597.1:p.Ala21197Val | |
| NM_001256850.1:c.63590C>T (TTN) | NP_001243779.1:p.Ala21197Val | |
| NM_001267550.2:c.68513C>T (TTN) MANE Select | NP_001254479.2:p.Ala22838Val | |
| NM_003319.4:c.41318C>T (TTN) | NP_003310.4:p.Ala13773Val | |
| NM_133378.4:c.60809C>T (TTN) | NP_596869.4:p.Ala20270Val | |
| NM_133432.3:c.41693C>T (TTN) | NP_597676.3:p.Ala13898Val | |
| NM_133437.4:c.41894C>T (TTN) | NP_597681.4:p.Ala13965Val | |
| NR_038271.1:n.596+6553G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-4570G>A (TTN-AS1) | ||
| XM_011511729.1:c.67610C>T (TTN) | XP_011510031.1:p.Ala22537Val | |
| XM_011511730.1:c.41504C>T (TTN) | XP_011510032.1:p.Ala13835Val | |
| XM_011511731.1:c.41363C>T (TTN) | XP_011510033.1:p.Ala13788Val | |
| XM_017004819.1:c.67406C>T (TTN) | XP_016860308.1:p.Ala22469Val | |
| XM_017004820.1:c.62804C>T (TTN) | XP_016860309.1:p.Ala20935Val | |
| XM_017004821.1:c.62801C>T (TTN) | XP_016860310.1:p.Ala20934Val | |
| XM_017004822.1:c.59843C>T (TTN) | XP_016860311.1:p.Ala19948Val | |
| XM_017004823.1:c.41459C>T (TTN) | XP_016860312.1:p.Ala13820Val | |
| XM_024453094.1:c.62954C>T (TTN) | XP_024308862.1:p.Ala20985Val | |
| XM_024453095.1:c.62951C>T (TTN) | XP_024308863.1:p.Ala20984Val | |
| XM_024453096.1:c.62384C>T (TTN) | XP_024308864.1:p.Ala20795Val | |
| XM_024453097.1:c.59726C>T (TTN) | XP_024308865.1:p.Ala19909Val | |
| XM_024453098.1:c.59645C>T (TTN) | XP_024308866.1:p.Ala19882Val | |
| XM_024453099.1:c.41408C>T (TTN) | XP_024308867.1:p.Ala13803Val | |
| XM_024453100.1:c.31262C>T (TTN) | XP_024308868.1:p.Ala10421Val |