Linked Data
ClinVar Variation Id:
47411
ClinVar RCV Id:
RCV000040681
RCV000300172
RCV000322064
RCV000353764
RCV000456607
RCV000768905
RCV000357436
RCV000997376
RCV002345318
RCV000787943
dbSNP Id:
rs201958805
ExAC:
2:179428457 T / G
gnomAD v2:
2-179428457-T-G
gnomAD v3:
2-178563730-T-G
gnomAD v4:
2-178563730-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563730T>G , CM000664.2:g.178563730T>G | GRCh38 |
| NC_000002.11:g.179428457T>G , CM000664.1:g.179428457T>G | GRCh37 |
| NC_000002.10:g.179136703T>G | NCBI36 |
| NG_011618.3:g.272073A>C , LRG_391:g.272073A>C | |
| NG_051363.1:g.45904T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74698A>C (TTN) | ENSP00000343764.6:p.Lys24900Gln | |
| ENST00000342175.11:c.55783A>C (TTN) | ENSP00000340554.6:p.Lys18595Gln | |
| ENST00000359218.10:c.55582A>C (TTN) | ENSP00000352154.5:p.Lys18528Gln | |
| ENST00000342175.10:c.55783A>C (TTN) | ENSP00000340554.6:p.Lys18595Gln | |
| ENST00000342992.10:c.74698A>C (TTN) | ENSP00000343764.6:p.Lys24900Gln | |
| ENST00000359218.9:c.55582A>C (TTN) | ENSP00000352154.5:p.Lys18528Gln | |
| ENST00000460472.6:c.55207A>C (TTN) | ENSP00000434586.1:p.Lys18403Gln | |
| ENST00000589042.5:c.82402A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys27468Gln | |
| ENST00000591111.5:c.77479A>C (TTN) | ENSP00000465570.1:p.Lys25827Gln | |
| ENST00000615779.4:c.77479A>C (TTN) | ENSP00000483597.1:p.Lys25827Gln | |
| NM_001256850.1:c.77479A>C (TTN) | NP_001243779.1:p.Lys25827Gln | |
| NM_001267550.2:c.82402A>C (TTN) MANE Select | NP_001254479.2:p.Lys27468Gln | |
| NM_003319.4:c.55207A>C (TTN) | NP_003310.4:p.Lys18403Gln | |
| NM_133378.4:c.74698A>C (TTN) | NP_596869.4:p.Lys24900Gln | |
| NM_133432.3:c.55582A>C (TTN) | NP_597676.3:p.Lys18528Gln | |
| NM_133437.4:c.55783A>C (TTN) | NP_597681.4:p.Lys18595Gln | |
| NR_038271.1:n.447-7570T>G (TTN-AS1) | ||
| NR_038272.1:n.2044-18842T>G (TTN-AS1) | ||
| XM_011511729.1:c.81499A>C (TTN) | XP_011510031.1:p.Lys27167Gln | |
| XM_011511730.1:c.55393A>C (TTN) | XP_011510032.1:p.Lys18465Gln | |
| XM_011511731.1:c.55252A>C (TTN) | XP_011510033.1:p.Lys18418Gln | |
| XM_017004819.1:c.81295A>C (TTN) | XP_016860308.1:p.Lys27099Gln | |
| XM_017004820.1:c.76693A>C (TTN) | XP_016860309.1:p.Lys25565Gln | |
| XM_017004821.1:c.76690A>C (TTN) | XP_016860310.1:p.Lys25564Gln | |
| XM_017004822.1:c.73732A>C (TTN) | XP_016860311.1:p.Lys24578Gln | |
| XM_017004823.1:c.55348A>C (TTN) | XP_016860312.1:p.Lys18450Gln | |
| XM_024453094.1:c.76843A>C (TTN) | XP_024308862.1:p.Lys25615Gln | |
| XM_024453095.1:c.76840A>C (TTN) | XP_024308863.1:p.Lys25614Gln | |
| XM_024453096.1:c.76273A>C (TTN) | XP_024308864.1:p.Lys25425Gln | |
| XM_024453097.1:c.73615A>C (TTN) | XP_024308865.1:p.Lys24539Gln | |
| XM_024453098.1:c.73534A>C (TTN) | XP_024308866.1:p.Lys24512Gln | |
| XM_024453099.1:c.55297A>C (TTN) | XP_024308867.1:p.Lys18433Gln | |
| XM_024453100.1:c.45151A>C (TTN) | XP_024308868.1:p.Lys15051Gln |