Linked Data
ClinVar Variation Id:
332721
dbSNP Id:
rs572618111
ExAC:
2:179409127 T / C
gnomAD v2:
2-179409127-T-C
gnomAD v3:
2-178544400-T-C
gnomAD v4:
2-178544400-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544400T>C , CM000664.2:g.178544400T>C | GRCh38 |
| NC_000002.11:g.179409127T>C , CM000664.1:g.179409127T>C | GRCh37 |
| NC_000002.10:g.179117373T>C | NCBI36 |
| NG_011618.3:g.291403A>G , LRG_391:g.291403A>G | |
| NG_051363.1:g.26574T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88125A>G (TTN) | ENSP00000343764.6:p.Gly29375= | |
| ENST00000342175.11:c.69210A>G (TTN) | ENSP00000340554.6:p.Gly23070= | |
| ENST00000359218.10:c.69009A>G (TTN) | ENSP00000352154.5:p.Gly23003= | |
| ENST00000342175.10:c.69210A>G (TTN) | ENSP00000340554.6:p.Gly23070= | |
| ENST00000342992.10:c.88125A>G (TTN) | ENSP00000343764.6:p.Gly29375= | |
| ENST00000359218.9:c.69009A>G (TTN) | ENSP00000352154.5:p.Gly23003= | |
| ENST00000460472.6:c.68634A>G (TTN) | ENSP00000434586.1:p.Gly22878= | |
| ENST00000589042.5:c.95829A>G (TTN) MANE Select | ENSP00000467141.1:p.Gly31943= | |
| ENST00000591111.5:c.90906A>G (TTN) | ENSP00000465570.1:p.Gly30302= | |
| ENST00000615779.4:c.90906A>G (TTN) | ENSP00000483597.1:p.Gly30302= | |
| NM_001256850.1:c.90906A>G (TTN) | NP_001243779.1:p.Gly30302= | |
| NM_001267550.2:c.95829A>G (TTN) MANE Select | NP_001254479.2:p.Gly31943= | |
| NM_003319.4:c.68634A>G (TTN) | NP_003310.4:p.Gly22878= | |
| NM_133378.4:c.88125A>G (TTN) | NP_596869.4:p.Gly29375= | |
| NM_133432.3:c.69009A>G (TTN) | NP_597676.3:p.Gly23003= | |
| NM_133437.4:c.69210A>G (TTN) | NP_597681.4:p.Gly23070= | |
| NR_038271.1:n.446+20764T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+2039T>C (TTN-AS1) | ||
| XM_011511729.1:c.94926A>G (TTN) | XP_011510031.1:p.Gly31642= | |
| XM_011511730.1:c.68820A>G (TTN) | XP_011510032.1:p.Gly22940= | |
| XM_011511731.1:c.68679A>G (TTN) | XP_011510033.1:p.Gly22893= | |
| XM_017004819.1:c.94722A>G (TTN) | XP_016860308.1:p.Gly31574= | |
| XM_017004820.1:c.90120A>G (TTN) | XP_016860309.1:p.Gly30040= | |
| XM_017004821.1:c.90117A>G (TTN) | XP_016860310.1:p.Gly30039= | |
| XM_017004822.1:c.87159A>G (TTN) | XP_016860311.1:p.Gly29053= | |
| XM_017004823.1:c.68775A>G (TTN) | XP_016860312.1:p.Gly22925= | |
| XM_024453094.1:c.90270A>G (TTN) | XP_024308862.1:p.Gly30090= | |
| XM_024453095.1:c.90267A>G (TTN) | XP_024308863.1:p.Gly30089= | |
| XM_024453096.1:c.89700A>G (TTN) | XP_024308864.1:p.Gly29900= | |
| XM_024453097.1:c.87042A>G (TTN) | XP_024308865.1:p.Gly29014= | |
| XM_024453098.1:c.86961A>G (TTN) | XP_024308866.1:p.Gly28987= | |
| XM_024453099.1:c.68724A>G (TTN) | XP_024308867.1:p.Gly22908= | |
| XM_024453100.1:c.58578A>G (TTN) | XP_024308868.1:p.Gly19526= |