Linked Data
ClinVar Variation Id:
203002
dbSNP Id:
rs190282707
ExAC:
2:179411970 G / T
gnomAD v2:
2-179411970-G-T
gnomAD v3:
2-178547243-G-T
gnomAD v4:
2-178547243-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547243G>T , CM000664.2:g.178547243G>T | GRCh38 |
| NC_000002.11:g.179411970G>T , CM000664.1:g.179411970G>T | GRCh37 |
| NC_000002.10:g.179120216G>T | NCBI36 |
| NG_011618.3:g.288560C>A , LRG_391:g.288560C>A | |
| NG_051363.1:g.29417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86578C>A (TTN) | ENSP00000343764.6:p.Arg28860Ser | |
| ENST00000342175.11:c.67663C>A (TTN) | ENSP00000340554.6:p.Arg22555Ser | |
| ENST00000359218.10:c.67462C>A (TTN) | ENSP00000352154.5:p.Arg22488Ser | |
| ENST00000342175.10:c.67663C>A (TTN) | ENSP00000340554.6:p.Arg22555Ser | |
| ENST00000342992.10:c.86578C>A (TTN) | ENSP00000343764.6:p.Arg28860Ser | |
| ENST00000359218.9:c.67462C>A (TTN) | ENSP00000352154.5:p.Arg22488Ser | |
| ENST00000460472.6:c.67087C>A (TTN) | ENSP00000434586.1:p.Arg22363Ser | |
| ENST00000589042.5:c.94282C>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31428Ser | |
| ENST00000591111.5:c.89359C>A (TTN) | ENSP00000465570.1:p.Arg29787Ser | |
| ENST00000615779.4:c.89359C>A (TTN) | ENSP00000483597.1:p.Arg29787Ser | |
| NM_001256850.1:c.89359C>A (TTN) | NP_001243779.1:p.Arg29787Ser | |
| NM_001267550.2:c.94282C>A (TTN) MANE Select | NP_001254479.2:p.Arg31428Ser | |
| NM_003319.4:c.67087C>A (TTN) | NP_003310.4:p.Arg22363Ser | |
| NM_133378.4:c.86578C>A (TTN) | NP_596869.4:p.Arg28860Ser | |
| NM_133432.3:c.67462C>A (TTN) | NP_597676.3:p.Arg22488Ser | |
| NM_133437.4:c.67663C>A (TTN) | NP_597681.4:p.Arg22555Ser | |
| NR_038271.1:n.446+23607G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4882G>T (TTN-AS1) | ||
| XM_011511729.1:c.93379C>A (TTN) | XP_011510031.1:p.Arg31127Ser | |
| XM_011511730.1:c.67273C>A (TTN) | XP_011510032.1:p.Arg22425Ser | |
| XM_011511731.1:c.67132C>A (TTN) | XP_011510033.1:p.Arg22378Ser | |
| XM_017004819.1:c.93175C>A (TTN) | XP_016860308.1:p.Arg31059Ser | |
| XM_017004820.1:c.88573C>A (TTN) | XP_016860309.1:p.Arg29525Ser | |
| XM_017004821.1:c.88570C>A (TTN) | XP_016860310.1:p.Arg29524Ser | |
| XM_017004822.1:c.85612C>A (TTN) | XP_016860311.1:p.Arg28538Ser | |
| XM_017004823.1:c.67228C>A (TTN) | XP_016860312.1:p.Arg22410Ser | |
| XM_024453094.1:c.88723C>A (TTN) | XP_024308862.1:p.Arg29575Ser | |
| XM_024453095.1:c.88720C>A (TTN) | XP_024308863.1:p.Arg29574Ser | |
| XM_024453096.1:c.88153C>A (TTN) | XP_024308864.1:p.Arg29385Ser | |
| XM_024453097.1:c.85495C>A (TTN) | XP_024308865.1:p.Arg28499Ser | |
| XM_024453098.1:c.85414C>A (TTN) | XP_024308866.1:p.Arg28472Ser | |
| XM_024453099.1:c.67177C>A (TTN) | XP_024308867.1:p.Arg22393Ser | |
| XM_024453100.1:c.57031C>A (TTN) | XP_024308868.1:p.Arg19011Ser |