Linked Data
ClinVar Variation Id:
228120
ClinVar RCV Id:
RCV000220189
RCV001135380
RCV000643282
RCV000997430
RCV001170817
RCV001135376
RCV001135377
RCV001135378
RCV001135379
RCV002453768
dbSNP Id:
rs370687831
ExAC:
2:179452805 G / A
gnomAD v2:
2-179452805-G-A
gnomAD v3:
2-178588078-G-A
gnomAD v4:
2-178588078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588078G>A , CM000664.2:g.178588078G>A | GRCh38 |
| NC_000002.11:g.179452805G>A , CM000664.1:g.179452805G>A | GRCh37 |
| NC_000002.10:g.179161051G>A | NCBI36 |
| NG_011618.3:g.247725C>T , LRG_391:g.247725C>T | |
| NG_051363.1:g.70252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55625C>T (TTN) | ENSP00000343764.6:p.Ala18542Val | |
| ENST00000342175.11:c.36710C>T (TTN) | ENSP00000340554.6:p.Ala12237Val | |
| ENST00000359218.10:c.36509C>T (TTN) | ENSP00000352154.5:p.Ala12170Val | |
| ENST00000342175.10:c.36710C>T (TTN) | ENSP00000340554.6:p.Ala12237Val | |
| ENST00000342992.10:c.55625C>T (TTN) | ENSP00000343764.6:p.Ala18542Val | |
| ENST00000359218.9:c.36509C>T (TTN) | ENSP00000352154.5:p.Ala12170Val | |
| ENST00000460472.6:c.36134C>T (TTN) | ENSP00000434586.1:p.Ala12045Val | |
| ENST00000589042.5:c.63329C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala21110Val | |
| ENST00000591111.5:c.58406C>T (TTN) | ENSP00000465570.1:p.Ala19469Val | |
| ENST00000615779.4:c.58406C>T (TTN) | ENSP00000483597.1:p.Ala19469Val | |
| NM_001256850.1:c.58406C>T (TTN) | NP_001243779.1:p.Ala19469Val | |
| NM_001267550.2:c.63329C>T (TTN) MANE Select | NP_001254479.2:p.Ala21110Val | |
| NM_003319.4:c.36134C>T (TTN) | NP_003310.4:p.Ala12045Val | |
| NM_133378.4:c.55625C>T (TTN) | NP_596869.4:p.Ala18542Val | |
| NM_133432.3:c.36509C>T (TTN) | NP_597676.3:p.Ala12170Val | |
| NM_133437.4:c.36710C>T (TTN) | NP_597681.4:p.Ala12237Val | |
| NR_038271.1:n.597-9518G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-3061G>A (TTN-AS1) | ||
| XM_011511729.1:c.62426C>T (TTN) | XP_011510031.1:p.Ala20809Val | |
| XM_011511730.1:c.36320C>T (TTN) | XP_011510032.1:p.Ala12107Val | |
| XM_011511731.1:c.36179C>T (TTN) | XP_011510033.1:p.Ala12060Val | |
| XM_017004819.1:c.62222C>T (TTN) | XP_016860308.1:p.Ala20741Val | |
| XM_017004820.1:c.57620C>T (TTN) | XP_016860309.1:p.Ala19207Val | |
| XM_017004821.1:c.57617C>T (TTN) | XP_016860310.1:p.Ala19206Val | |
| XM_017004822.1:c.54659C>T (TTN) | XP_016860311.1:p.Ala18220Val | |
| XM_017004823.1:c.36275C>T (TTN) | XP_016860312.1:p.Ala12092Val | |
| XM_024453094.1:c.57770C>T (TTN) | XP_024308862.1:p.Ala19257Val | |
| XM_024453095.1:c.57767C>T (TTN) | XP_024308863.1:p.Ala19256Val | |
| XM_024453096.1:c.57200C>T (TTN) | XP_024308864.1:p.Ala19067Val | |
| XM_024453097.1:c.54542C>T (TTN) | XP_024308865.1:p.Ala18181Val | |
| XM_024453098.1:c.54461C>T (TTN) | XP_024308866.1:p.Ala18154Val | |
| XM_024453099.1:c.36224C>T (TTN) | XP_024308867.1:p.Ala12075Val | |
| XM_024453100.1:c.26078C>T (TTN) | XP_024308868.1:p.Ala8693Val |