Linked Data
ClinVar Variation Id:
47042
ClinVar RCV Id:
RCV000040312
RCV000284717
RCV000288386
RCV000324575
RCV000339767
RCV000404730
RCV000539364
RCV000770017
RCV001703901
RCV002426575
RCV004541159
dbSNP Id:
rs397517599
ExAC:
2:179476673 A / G
gnomAD v2:
2-179476673-A-G
gnomAD v3:
2-178611946-A-G
gnomAD v4:
2-178611946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611946A>G , CM000664.2:g.178611946A>G | GRCh38 |
| NC_000002.11:g.179476673A>G , CM000664.1:g.179476673A>G | GRCh37 |
| NC_000002.10:g.179184918A>G | NCBI36 |
| NG_011618.3:g.223857T>C , LRG_391:g.223857T>C | |
| NG_051363.1:g.94120A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42659T>C (TTN) | ENSP00000343764.6:p.Ile14220Thr | |
| ENST00000342175.11:c.23744T>C (TTN) | ENSP00000340554.6:p.Ile7915Thr | |
| ENST00000359218.10:c.23543T>C (TTN) | ENSP00000352154.5:p.Ile7848Thr | |
| ENST00000342175.10:c.23744T>C (TTN) | ENSP00000340554.6:p.Ile7915Thr | |
| ENST00000342992.10:c.42659T>C (TTN) | ENSP00000343764.6:p.Ile14220Thr | |
| ENST00000359218.9:c.23543T>C (TTN) | ENSP00000352154.5:p.Ile7848Thr | |
| ENST00000460472.6:c.23168T>C (TTN) | ENSP00000434586.1:p.Ile7723Thr | |
| ENST00000589042.5:c.50363T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile16788Thr | |
| ENST00000591111.5:c.45440T>C (TTN) | ENSP00000465570.1:p.Ile15147Thr | |
| ENST00000615779.4:c.45440T>C (TTN) | ENSP00000483597.1:p.Ile15147Thr | |
| NM_001256850.1:c.45440T>C (TTN) | NP_001243779.1:p.Ile15147Thr | |
| NM_001267550.2:c.50363T>C (TTN) MANE Select | NP_001254479.2:p.Ile16788Thr | |
| NM_003319.4:c.23168T>C (TTN) | NP_003310.4:p.Ile7723Thr | |
| NM_133378.4:c.42659T>C (TTN) | NP_596869.4:p.Ile14220Thr | |
| NM_133432.3:c.23543T>C (TTN) | NP_597676.3:p.Ile7848Thr | |
| NM_133437.4:c.23744T>C (TTN) | NP_597681.4:p.Ile7915Thr | |
| NR_038271.1:n.783-2089A>G (TTN-AS1) | ||
| XM_011511729.1:c.49460T>C (TTN) | XP_011510031.1:p.Ile16487Thr | |
| XM_011511730.1:c.23354T>C (TTN) | XP_011510032.1:p.Ile7785Thr | |
| XM_011511731.1:c.23213T>C (TTN) | XP_011510033.1:p.Ile7738Thr | |
| XM_017004819.1:c.49256T>C (TTN) | XP_016860308.1:p.Ile16419Thr | |
| XM_017004820.1:c.44654T>C (TTN) | XP_016860309.1:p.Ile14885Thr | |
| XM_017004821.1:c.44651T>C (TTN) | XP_016860310.1:p.Ile14884Thr | |
| XM_017004822.1:c.41693T>C (TTN) | XP_016860311.1:p.Ile13898Thr | |
| XM_017004823.1:c.23309T>C (TTN) | XP_016860312.1:p.Ile7770Thr | |
| XM_024453094.1:c.44804T>C (TTN) | XP_024308862.1:p.Ile14935Thr | |
| XM_024453095.1:c.44801T>C (TTN) | XP_024308863.1:p.Ile14934Thr | |
| XM_024453096.1:c.44234T>C (TTN) | XP_024308864.1:p.Ile14745Thr | |
| XM_024453097.1:c.41576T>C (TTN) | XP_024308865.1:p.Ile13859Thr | |
| XM_024453098.1:c.41495T>C (TTN) | XP_024308866.1:p.Ile13832Thr | |
| XM_024453099.1:c.23258T>C (TTN) | XP_024308867.1:p.Ile7753Thr | |
| XM_024453100.1:c.13112T>C (TTN) | XP_024308868.1:p.Ile4371Thr |