Linked Data
ClinVar Variation Id:
281477
dbSNP Id:
rs766440492
ExAC:
2:179392403 G / A
gnomAD v2:
2-179392403-G-A
gnomAD v3:
2-178527676-G-A
gnomAD v4:
2-178527676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527676G>A , CM000664.2:g.178527676G>A | GRCh38 |
| NC_000002.11:g.179392403G>A , CM000664.1:g.179392403G>A | GRCh37 |
| NC_000002.10:g.179100649G>A | NCBI36 |
| NG_011618.3:g.308127C>T , LRG_391:g.308127C>T | |
| NG_051363.1:g.9850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99746C>T (TTN) | ENSP00000343764.6:p.Ser33249Leu | |
| ENST00000342175.11:c.80831C>T (TTN) | ENSP00000340554.6:p.Ser26944Leu | |
| ENST00000359218.10:c.80630C>T (TTN) | ENSP00000352154.5:p.Ser26877Leu | |
| ENST00000342175.10:c.80831C>T (TTN) | ENSP00000340554.6:p.Ser26944Leu | |
| ENST00000342992.10:c.99746C>T (TTN) | ENSP00000343764.6:p.Ser33249Leu | |
| ENST00000359218.9:c.80630C>T (TTN) | ENSP00000352154.5:p.Ser26877Leu | |
| ENST00000460472.6:c.80255C>T (TTN) | ENSP00000434586.1:p.Ser26752Leu | |
| ENST00000589042.5:c.107450C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser35817Leu | |
| ENST00000591111.5:c.102527C>T (TTN) | ENSP00000465570.1:p.Ser34176Leu | |
| ENST00000615779.4:c.102527C>T (TTN) | ENSP00000483597.1:p.Ser34176Leu | |
| NM_001256850.1:c.102527C>T (TTN) | NP_001243779.1:p.Ser34176Leu | |
| NM_001267550.2:c.107450C>T (TTN) MANE Select | NP_001254479.2:p.Ser35817Leu | |
| NM_003319.4:c.80255C>T (TTN) | NP_003310.4:p.Ser26752Leu | |
| NM_133378.4:c.99746C>T (TTN) | NP_596869.4:p.Ser33249Leu | |
| NM_133432.3:c.80630C>T (TTN) | NP_597676.3:p.Ser26877Leu | |
| NM_133437.4:c.80831C>T (TTN) | NP_597681.4:p.Ser26944Leu | |
| NR_038271.1:n.446+4040G>A (TTN-AS1) | ||
| NR_038272.1:n.219+4040G>A (TTN-AS1) | ||
| XM_011511729.1:c.106547C>T (TTN) | XP_011510031.1:p.Ser35516Leu | |
| XM_011511730.1:c.80441C>T (TTN) | XP_011510032.1:p.Ser26814Leu | |
| XM_011511731.1:c.80300C>T (TTN) | XP_011510033.1:p.Ser26767Leu | |
| XM_017004819.1:c.106343C>T (TTN) | XP_016860308.1:p.Ser35448Leu | |
| XM_017004820.1:c.101741C>T (TTN) | XP_016860309.1:p.Ser33914Leu | |
| XM_017004821.1:c.101738C>T (TTN) | XP_016860310.1:p.Ser33913Leu | |
| XM_017004822.1:c.98780C>T (TTN) | XP_016860311.1:p.Ser32927Leu | |
| XM_017004823.1:c.80396C>T (TTN) | XP_016860312.1:p.Ser26799Leu | |
| XM_024453094.1:c.101891C>T (TTN) | XP_024308862.1:p.Ser33964Leu | |
| XM_024453095.1:c.101888C>T (TTN) | XP_024308863.1:p.Ser33963Leu | |
| XM_024453096.1:c.101321C>T (TTN) | XP_024308864.1:p.Ser33774Leu | |
| XM_024453097.1:c.98663C>T (TTN) | XP_024308865.1:p.Ser32888Leu | |
| XM_024453098.1:c.98582C>T (TTN) | XP_024308866.1:p.Ser32861Leu | |
| XM_024453099.1:c.80345C>T (TTN) | XP_024308867.1:p.Ser26782Leu | |
| XM_024453100.1:c.70199C>T (TTN) | XP_024308868.1:p.Ser23400Leu |