Linked Data
ClinVar Variation Id:
202942
dbSNP Id:
rs72648228
ExAC:
2:179422470 G / C
gnomAD v2:
2-179422470-G-C
gnomAD v3:
2-178557743-G-C
gnomAD v4:
2-178557743-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557743G>C , CM000664.2:g.178557743G>C | GRCh38 |
| NC_000002.11:g.179422470G>C , CM000664.1:g.179422470G>C | GRCh37 |
| NC_000002.10:g.179130716G>C | NCBI36 |
| NG_011618.3:g.278060C>G , LRG_391:g.278060C>G | |
| NG_051363.1:g.39917G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79907C>G (TTN) | ENSP00000343764.6:p.Thr26636Arg | |
| ENST00000342175.11:c.60992C>G (TTN) | ENSP00000340554.6:p.Thr20331Arg | |
| ENST00000359218.10:c.60791C>G (TTN) | ENSP00000352154.5:p.Thr20264Arg | |
| ENST00000342175.10:c.60992C>G (TTN) | ENSP00000340554.6:p.Thr20331Arg | |
| ENST00000342992.10:c.79907C>G (TTN) | ENSP00000343764.6:p.Thr26636Arg | |
| ENST00000359218.9:c.60791C>G (TTN) | ENSP00000352154.5:p.Thr20264Arg | |
| ENST00000460472.6:c.60416C>G (TTN) | ENSP00000434586.1:p.Thr20139Arg | |
| ENST00000589042.5:c.87611C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr29204Arg | |
| ENST00000591111.5:c.82688C>G (TTN) | ENSP00000465570.1:p.Thr27563Arg | |
| ENST00000615779.4:c.82688C>G (TTN) | ENSP00000483597.1:p.Thr27563Arg | |
| NM_001256850.1:c.82688C>G (TTN) | NP_001243779.1:p.Thr27563Arg | |
| NM_001267550.2:c.87611C>G (TTN) MANE Select | NP_001254479.2:p.Thr29204Arg | |
| NM_003319.4:c.60416C>G (TTN) | NP_003310.4:p.Thr20139Arg | |
| NM_133378.4:c.79907C>G (TTN) | NP_596869.4:p.Thr26636Arg | |
| NM_133432.3:c.60791C>G (TTN) | NP_597676.3:p.Thr20264Arg | |
| NM_133437.4:c.60992C>G (TTN) | NP_597681.4:p.Thr20331Arg | |
| NR_038271.1:n.447-13557G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+15382G>C (TTN-AS1) | ||
| XM_011511729.1:c.86708C>G (TTN) | XP_011510031.1:p.Thr28903Arg | |
| XM_011511730.1:c.60602C>G (TTN) | XP_011510032.1:p.Thr20201Arg | |
| XM_011511731.1:c.60461C>G (TTN) | XP_011510033.1:p.Thr20154Arg | |
| XM_017004819.1:c.86504C>G (TTN) | XP_016860308.1:p.Thr28835Arg | |
| XM_017004820.1:c.81902C>G (TTN) | XP_016860309.1:p.Thr27301Arg | |
| XM_017004821.1:c.81899C>G (TTN) | XP_016860310.1:p.Thr27300Arg | |
| XM_017004822.1:c.78941C>G (TTN) | XP_016860311.1:p.Thr26314Arg | |
| XM_017004823.1:c.60557C>G (TTN) | XP_016860312.1:p.Thr20186Arg | |
| XM_024453094.1:c.82052C>G (TTN) | XP_024308862.1:p.Thr27351Arg | |
| XM_024453095.1:c.82049C>G (TTN) | XP_024308863.1:p.Thr27350Arg | |
| XM_024453096.1:c.81482C>G (TTN) | XP_024308864.1:p.Thr27161Arg | |
| XM_024453097.1:c.78824C>G (TTN) | XP_024308865.1:p.Thr26275Arg | |
| XM_024453098.1:c.78743C>G (TTN) | XP_024308866.1:p.Thr26248Arg | |
| XM_024453099.1:c.60506C>G (TTN) | XP_024308867.1:p.Thr20169Arg | |
| XM_024453100.1:c.50360C>G (TTN) | XP_024308868.1:p.Thr16787Arg |