Linked Data
ClinVar Variation Id:
332851
ClinVar RCV Id:
RCV000306033
RCV000307343
RCV000347059
RCV000364155
RCV000441561
RCV000405787
RCV002057622
dbSNP Id:
rs779940754
ExAC:
2:179481562 G / A
gnomAD v2:
2-179481562-G-A
gnomAD v3:
2-178616835-G-A
gnomAD v4:
2-178616835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616835G>A , CM000664.2:g.178616835G>A | GRCh38 |
| NC_000002.11:g.179481562G>A , CM000664.1:g.179481562G>A | GRCh37 |
| NC_000002.10:g.179189807G>A | NCBI36 |
| NG_011618.3:g.218968C>T , LRG_391:g.218968C>T | |
| NG_051363.1:g.99009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40350C>T (TTN) | ENSP00000343764.6:p.Ala13450= | |
| ENST00000342175.11:c.21435C>T (TTN) | ENSP00000340554.6:p.Ala7145= | |
| ENST00000359218.10:c.21234C>T (TTN) | ENSP00000352154.5:p.Ala7078= | |
| ENST00000342175.10:c.21435C>T (TTN) | ENSP00000340554.6:p.Ala7145= | |
| ENST00000342992.10:c.40350C>T (TTN) | ENSP00000343764.6:p.Ala13450= | |
| ENST00000359218.9:c.21234C>T (TTN) | ENSP00000352154.5:p.Ala7078= | |
| ENST00000460472.6:c.20859C>T (TTN) | ENSP00000434586.1:p.Ala6953= | |
| ENST00000589042.5:c.48054C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala16018= | |
| ENST00000591111.5:c.43131C>T (TTN) | ENSP00000465570.1:p.Ala14377= | |
| ENST00000615779.4:c.43131C>T (TTN) | ENSP00000483597.1:p.Ala14377= | |
| NM_001256850.1:c.43131C>T (TTN) | NP_001243779.1:p.Ala14377= | |
| NM_001267550.2:c.48054C>T (TTN) MANE Select | NP_001254479.2:p.Ala16018= | |
| NM_003319.4:c.20859C>T (TTN) | NP_003310.4:p.Ala6953= | |
| NM_133378.4:c.40350C>T (TTN) | NP_596869.4:p.Ala13450= | |
| NM_133432.3:c.21234C>T (TTN) | NP_597676.3:p.Ala7078= | |
| NM_133437.4:c.21435C>T (TTN) | NP_597681.4:p.Ala7145= | |
| NR_038271.1:n.1604+1461G>A (TTN-AS1) | ||
| XM_011511729.1:c.47151C>T (TTN) | XP_011510031.1:p.Ala15717= | |
| XM_011511730.1:c.21045C>T (TTN) | XP_011510032.1:p.Ala7015= | |
| XM_011511731.1:c.20904C>T (TTN) | XP_011510033.1:p.Ala6968= | |
| XM_017004819.1:c.46947C>T (TTN) | XP_016860308.1:p.Ala15649= | |
| XM_017004820.1:c.42345C>T (TTN) | XP_016860309.1:p.Ala14115= | |
| XM_017004821.1:c.42342C>T (TTN) | XP_016860310.1:p.Ala14114= | |
| XM_017004822.1:c.39384C>T (TTN) | XP_016860311.1:p.Ala13128= | |
| XM_017004823.1:c.21000C>T (TTN) | XP_016860312.1:p.Ala7000= | |
| XM_024453094.1:c.42495C>T (TTN) | XP_024308862.1:p.Ala14165= | |
| XM_024453095.1:c.42492C>T (TTN) | XP_024308863.1:p.Ala14164= | |
| XM_024453096.1:c.41925C>T (TTN) | XP_024308864.1:p.Ala13975= | |
| XM_024453097.1:c.39267C>T (TTN) | XP_024308865.1:p.Ala13089= | |
| XM_024453098.1:c.39186C>T (TTN) | XP_024308866.1:p.Ala13062= | |
| XM_024453099.1:c.20949C>T (TTN) | XP_024308867.1:p.Ala6983= | |
| XM_024453100.1:c.10803C>T (TTN) | XP_024308868.1:p.Ala3601= |