Linked Data
ClinVar Variation Id:
191136
ClinVar RCV Id:
RCV000171317
RCV000288338
RCV000303449
RCV000340260
RCV000343261
RCV000406446
RCV000544634
RCV001293233
RCV003137700
dbSNP Id:
rs571093313
ExAC:
2:179446813 G / A
gnomAD v2:
2-179446813-G-A
gnomAD v3:
2-178582086-G-A
gnomAD v4:
2-178582086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582086G>A , CM000664.2:g.178582086G>A | GRCh38 |
| NC_000002.11:g.179446813G>A , CM000664.1:g.179446813G>A | GRCh37 |
| NC_000002.10:g.179155059G>A | NCBI36 |
| NG_011618.3:g.253717C>T , LRG_391:g.253717C>T | |
| NG_051363.1:g.64260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58579C>T (TTN) | ENSP00000343764.6:p.Arg19527Trp | |
| ENST00000342175.11:c.39664C>T (TTN) | ENSP00000340554.6:p.Arg13222Trp | |
| ENST00000359218.10:c.39463C>T (TTN) | ENSP00000352154.5:p.Arg13155Trp | |
| ENST00000342175.10:c.39664C>T (TTN) | ENSP00000340554.6:p.Arg13222Trp | |
| ENST00000342992.10:c.58579C>T (TTN) | ENSP00000343764.6:p.Arg19527Trp | |
| ENST00000359218.9:c.39463C>T (TTN) | ENSP00000352154.5:p.Arg13155Trp | |
| ENST00000460472.6:c.39088C>T (TTN) | ENSP00000434586.1:p.Arg13030Trp | |
| ENST00000589042.5:c.66283C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22095Trp | |
| ENST00000591111.5:c.61360C>T (TTN) | ENSP00000465570.1:p.Arg20454Trp | |
| ENST00000615779.4:c.61360C>T (TTN) | ENSP00000483597.1:p.Arg20454Trp | |
| NM_001256850.1:c.61360C>T (TTN) | NP_001243779.1:p.Arg20454Trp | |
| NM_001267550.2:c.66283C>T (TTN) MANE Select | NP_001254479.2:p.Arg22095Trp | |
| NM_003319.4:c.39088C>T (TTN) | NP_003310.4:p.Arg13030Trp | |
| NM_133378.4:c.58579C>T (TTN) | NP_596869.4:p.Arg19527Trp | |
| NM_133432.3:c.39463C>T (TTN) | NP_597676.3:p.Arg13155Trp | |
| NM_133437.4:c.39664C>T (TTN) | NP_597681.4:p.Arg13222Trp | |
| NR_038271.1:n.596+10637G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-486G>A (TTN-AS1) | ||
| XM_011511729.1:c.65380C>T (TTN) | XP_011510031.1:p.Arg21794Trp | |
| XM_011511730.1:c.39274C>T (TTN) | XP_011510032.1:p.Arg13092Trp | |
| XM_011511731.1:c.39133C>T (TTN) | XP_011510033.1:p.Arg13045Trp | |
| XM_017004819.1:c.65176C>T (TTN) | XP_016860308.1:p.Arg21726Trp | |
| XM_017004820.1:c.60574C>T (TTN) | XP_016860309.1:p.Arg20192Trp | |
| XM_017004821.1:c.60571C>T (TTN) | XP_016860310.1:p.Arg20191Trp | |
| XM_017004822.1:c.57613C>T (TTN) | XP_016860311.1:p.Arg19205Trp | |
| XM_017004823.1:c.39229C>T (TTN) | XP_016860312.1:p.Arg13077Trp | |
| XM_024453094.1:c.60724C>T (TTN) | XP_024308862.1:p.Arg20242Trp | |
| XM_024453095.1:c.60721C>T (TTN) | XP_024308863.1:p.Arg20241Trp | |
| XM_024453096.1:c.60154C>T (TTN) | XP_024308864.1:p.Arg20052Trp | |
| XM_024453097.1:c.57496C>T (TTN) | XP_024308865.1:p.Arg19166Trp | |
| XM_024453098.1:c.57415C>T (TTN) | XP_024308866.1:p.Arg19139Trp | |
| XM_024453099.1:c.39178C>T (TTN) | XP_024308867.1:p.Arg13060Trp | |
| XM_024453100.1:c.29032C>T (TTN) | XP_024308868.1:p.Arg9678Trp |