Linked Data
ClinVar Variation Id:
130678
dbSNP Id:
rs56019808
ExAC:
2:179439018 C / G
gnomAD v2:
2-179439018-C-G
gnomAD v3:
2-178574291-C-G
gnomAD v4:
2-178574291-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574291C>G , CM000664.2:g.178574291C>G | GRCh38 |
| NC_000002.11:g.179439018C>G , CM000664.1:g.179439018C>G | GRCh37 |
| NC_000002.10:g.179147264C>G | NCBI36 |
| NG_011618.3:g.261512G>C , LRG_391:g.261512G>C | |
| NG_051363.1:g.56465C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64137G>C (TTN) | ENSP00000343764.6:p.Lys21379Asn | |
| ENST00000342175.11:c.45222G>C (TTN) | ENSP00000340554.6:p.Lys15074Asn | |
| ENST00000359218.10:c.45021G>C (TTN) | ENSP00000352154.5:p.Lys15007Asn | |
| ENST00000342175.10:c.45222G>C (TTN) | ENSP00000340554.6:p.Lys15074Asn | |
| ENST00000342992.10:c.64137G>C (TTN) | ENSP00000343764.6:p.Lys21379Asn | |
| ENST00000359218.9:c.45021G>C (TTN) | ENSP00000352154.5:p.Lys15007Asn | |
| ENST00000460472.6:c.44646G>C (TTN) | ENSP00000434586.1:p.Lys14882Asn | |
| ENST00000589042.5:c.71841G>C (TTN) MANE Select | ENSP00000467141.1:p.Lys23947Asn | |
| ENST00000591111.5:c.66918G>C (TTN) | ENSP00000465570.1:p.Lys22306Asn | |
| ENST00000615779.4:c.66918G>C (TTN) | ENSP00000483597.1:p.Lys22306Asn | |
| NM_001256850.1:c.66918G>C (TTN) | NP_001243779.1:p.Lys22306Asn | |
| NM_001267550.2:c.71841G>C (TTN) MANE Select | NP_001254479.2:p.Lys23947Asn | |
| NM_003319.4:c.44646G>C (TTN) | NP_003310.4:p.Lys14882Asn | |
| NM_133378.4:c.64137G>C (TTN) | NP_596869.4:p.Lys21379Asn | |
| NM_133432.3:c.45021G>C (TTN) | NP_597676.3:p.Lys15007Asn | |
| NM_133437.4:c.45222G>C (TTN) | NP_597681.4:p.Lys15074Asn | |
| NR_038271.1:n.596+2842C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8281C>G (TTN-AS1) | ||
| XM_011511729.1:c.70938G>C (TTN) | XP_011510031.1:p.Lys23646Asn | |
| XM_011511730.1:c.44832G>C (TTN) | XP_011510032.1:p.Lys14944Asn | |
| XM_011511731.1:c.44691G>C (TTN) | XP_011510033.1:p.Lys14897Asn | |
| XM_017004819.1:c.70734G>C (TTN) | XP_016860308.1:p.Lys23578Asn | |
| XM_017004820.1:c.66132G>C (TTN) | XP_016860309.1:p.Lys22044Asn | |
| XM_017004821.1:c.66129G>C (TTN) | XP_016860310.1:p.Lys22043Asn | |
| XM_017004822.1:c.63171G>C (TTN) | XP_016860311.1:p.Lys21057Asn | |
| XM_017004823.1:c.44787G>C (TTN) | XP_016860312.1:p.Lys14929Asn | |
| XM_024453094.1:c.66282G>C (TTN) | XP_024308862.1:p.Lys22094Asn | |
| XM_024453095.1:c.66279G>C (TTN) | XP_024308863.1:p.Lys22093Asn | |
| XM_024453096.1:c.65712G>C (TTN) | XP_024308864.1:p.Lys21904Asn | |
| XM_024453097.1:c.63054G>C (TTN) | XP_024308865.1:p.Lys21018Asn | |
| XM_024453098.1:c.62973G>C (TTN) | XP_024308866.1:p.Lys20991Asn | |
| XM_024453099.1:c.44736G>C (TTN) | XP_024308867.1:p.Lys14912Asn | |
| XM_024453100.1:c.34590G>C (TTN) | XP_024308868.1:p.Lys11530Asn |