Linked Data
ClinVar Variation Id:
203117
dbSNP Id:
rs776981475
ExAC:
2:179392336 A / C
gnomAD v2:
2-179392336-A-C
gnomAD v3:
2-178527609-A-C
gnomAD v4:
2-178527609-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527609A>C , CM000664.2:g.178527609A>C | GRCh38 |
| NC_000002.11:g.179392336A>C , CM000664.1:g.179392336A>C | GRCh37 |
| NC_000002.10:g.179100582A>C | NCBI36 |
| NG_011618.3:g.308194T>G , LRG_391:g.308194T>G | |
| NG_051363.1:g.9783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99813T>G (TTN) | ENSP00000343764.6:p.Ser33271Arg | |
| ENST00000342175.11:c.80898T>G (TTN) | ENSP00000340554.6:p.Ser26966Arg | |
| ENST00000359218.10:c.80697T>G (TTN) | ENSP00000352154.5:p.Ser26899Arg | |
| ENST00000342175.10:c.80898T>G (TTN) | ENSP00000340554.6:p.Ser26966Arg | |
| ENST00000342992.10:c.99813T>G (TTN) | ENSP00000343764.6:p.Ser33271Arg | |
| ENST00000359218.9:c.80697T>G (TTN) | ENSP00000352154.5:p.Ser26899Arg | |
| ENST00000460472.6:c.80322T>G (TTN) | ENSP00000434586.1:p.Ser26774Arg | |
| ENST00000589042.5:c.107517T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser35839Arg | |
| ENST00000591111.5:c.102594T>G (TTN) | ENSP00000465570.1:p.Ser34198Arg | |
| ENST00000615779.4:c.102594T>G (TTN) | ENSP00000483597.1:p.Ser34198Arg | |
| NM_001256850.1:c.102594T>G (TTN) | NP_001243779.1:p.Ser34198Arg | |
| NM_001267550.2:c.107517T>G (TTN) MANE Select | NP_001254479.2:p.Ser35839Arg | |
| NM_003319.4:c.80322T>G (TTN) | NP_003310.4:p.Ser26774Arg | |
| NM_133378.4:c.99813T>G (TTN) | NP_596869.4:p.Ser33271Arg | |
| NM_133432.3:c.80697T>G (TTN) | NP_597676.3:p.Ser26899Arg | |
| NM_133437.4:c.80898T>G (TTN) | NP_597681.4:p.Ser26966Arg | |
| NR_038271.1:n.446+3973A>C (TTN-AS1) | ||
| NR_038272.1:n.219+3973A>C (TTN-AS1) | ||
| XM_011511729.1:c.106614T>G (TTN) | XP_011510031.1:p.Ser35538Arg | |
| XM_011511730.1:c.80508T>G (TTN) | XP_011510032.1:p.Ser26836Arg | |
| XM_011511731.1:c.80367T>G (TTN) | XP_011510033.1:p.Ser26789Arg | |
| XM_017004819.1:c.106410T>G (TTN) | XP_016860308.1:p.Ser35470Arg | |
| XM_017004820.1:c.101808T>G (TTN) | XP_016860309.1:p.Ser33936Arg | |
| XM_017004821.1:c.101805T>G (TTN) | XP_016860310.1:p.Ser33935Arg | |
| XM_017004822.1:c.98847T>G (TTN) | XP_016860311.1:p.Ser32949Arg | |
| XM_017004823.1:c.80463T>G (TTN) | XP_016860312.1:p.Ser26821Arg | |
| XM_024453094.1:c.101958T>G (TTN) | XP_024308862.1:p.Ser33986Arg | |
| XM_024453095.1:c.101955T>G (TTN) | XP_024308863.1:p.Ser33985Arg | |
| XM_024453096.1:c.101388T>G (TTN) | XP_024308864.1:p.Ser33796Arg | |
| XM_024453097.1:c.98730T>G (TTN) | XP_024308865.1:p.Ser32910Arg | |
| XM_024453098.1:c.98649T>G (TTN) | XP_024308866.1:p.Ser32883Arg | |
| XM_024453099.1:c.80412T>G (TTN) | XP_024308867.1:p.Ser26804Arg | |
| XM_024453100.1:c.70266T>G (TTN) | XP_024308868.1:p.Ser23422Arg |