Linked Data
ClinVar Variation Id:
167781
ClinVar RCV Id:
RCV000723875
dbSNP Id:
rs727504194
ExAC:
2:179477193 T / C
gnomAD v2:
2-179477193-T-C
gnomAD v3:
2-178612466-T-C
gnomAD v4:
2-178612466-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612466T>C , CM000664.2:g.178612466T>C | GRCh38 |
| NC_000002.11:g.179477193T>C , CM000664.1:g.179477193T>C | GRCh37 |
| NC_000002.10:g.179185438T>C | NCBI36 |
| NG_011618.3:g.223337A>G , LRG_391:g.223337A>G | |
| NG_051363.1:g.94640T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.42355A>G (TTN) | ENSP00000343764.6:p.Ile14119Val | |
| ENST00000342175.11:c.23440A>G (TTN) | ENSP00000340554.6:p.Ile7814Val | |
| ENST00000359218.10:c.23239A>G (TTN) | ENSP00000352154.5:p.Ile7747Val | |
| ENST00000342175.10:c.23440A>G (TTN) | ENSP00000340554.6:p.Ile7814Val | |
| ENST00000342992.10:c.42355A>G (TTN) | ENSP00000343764.6:p.Ile14119Val | |
| ENST00000359218.9:c.23239A>G (TTN) | ENSP00000352154.5:p.Ile7747Val | |
| ENST00000460472.6:c.22864A>G (TTN) | ENSP00000434586.1:p.Ile7622Val | |
| ENST00000589042.5:c.50059A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile16687Val | |
| ENST00000591111.5:c.45136A>G (TTN) | ENSP00000465570.1:p.Ile15046Val | |
| ENST00000615779.4:c.45136A>G (TTN) | ENSP00000483597.1:p.Ile15046Val | |
| NM_001256850.1:c.45136A>G (TTN) | NP_001243779.1:p.Ile15046Val | |
| NM_001267550.2:c.50059A>G (TTN) MANE Select | NP_001254479.2:p.Ile16687Val | |
| NM_003319.4:c.22864A>G (TTN) | NP_003310.4:p.Ile7622Val | |
| NM_133378.4:c.42355A>G (TTN) | NP_596869.4:p.Ile14119Val | |
| NM_133432.3:c.23239A>G (TTN) | NP_597676.3:p.Ile7747Val | |
| NM_133437.4:c.23440A>G (TTN) | NP_597681.4:p.Ile7814Val | |
| NR_038271.1:n.783-1569T>C (TTN-AS1) | ||
| XM_011511729.1:c.49156A>G (TTN) | XP_011510031.1:p.Ile16386Val | |
| XM_011511730.1:c.23050A>G (TTN) | XP_011510032.1:p.Ile7684Val | |
| XM_011511731.1:c.22909A>G (TTN) | XP_011510033.1:p.Ile7637Val | |
| XM_017004819.1:c.48952A>G (TTN) | XP_016860308.1:p.Ile16318Val | |
| XM_017004820.1:c.44350A>G (TTN) | XP_016860309.1:p.Ile14784Val | |
| XM_017004821.1:c.44347A>G (TTN) | XP_016860310.1:p.Ile14783Val | |
| XM_017004822.1:c.41389A>G (TTN) | XP_016860311.1:p.Ile13797Val | |
| XM_017004823.1:c.23005A>G (TTN) | XP_016860312.1:p.Ile7669Val | |
| XM_024453094.1:c.44500A>G (TTN) | XP_024308862.1:p.Ile14834Val | |
| XM_024453095.1:c.44497A>G (TTN) | XP_024308863.1:p.Ile14833Val | |
| XM_024453096.1:c.43930A>G (TTN) | XP_024308864.1:p.Ile14644Val | |
| XM_024453097.1:c.41272A>G (TTN) | XP_024308865.1:p.Ile13758Val | |
| XM_024453098.1:c.41191A>G (TTN) | XP_024308866.1:p.Ile13731Val | |
| XM_024453099.1:c.22954A>G (TTN) | XP_024308867.1:p.Ile7652Val | |
| XM_024453100.1:c.12808A>G (TTN) | XP_024308868.1:p.Ile4270Val |