Linked Data
dbSNP Id:
rs769505255
ExAC:
2:179395302 T / C
gnomAD v2:
2-179395302-T-C
gnomAD v4:
2-178530575-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530575T>C , CM000664.2:g.178530575T>C | GRCh38 |
| NC_000002.11:g.179395302T>C , CM000664.1:g.179395302T>C | GRCh37 |
| NC_000002.10:g.179103548T>C | NCBI36 |
| NG_011618.3:g.305228A>G , LRG_391:g.305228A>G | |
| NG_051363.1:g.12749T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98336A>G (TTN) | ENSP00000343764.6:p.Asn32779Ser | |
| ENST00000342175.11:c.79421A>G (TTN) | ENSP00000340554.6:p.Asn26474Ser | |
| ENST00000359218.10:c.79220A>G (TTN) | ENSP00000352154.5:p.Asn26407Ser | |
| ENST00000342175.10:c.79421A>G (TTN) | ENSP00000340554.6:p.Asn26474Ser | |
| ENST00000342992.10:c.98336A>G (TTN) | ENSP00000343764.6:p.Asn32779Ser | |
| ENST00000359218.9:c.79220A>G (TTN) | ENSP00000352154.5:p.Asn26407Ser | |
| ENST00000460472.6:c.78845A>G (TTN) | ENSP00000434586.1:p.Asn26282Ser | |
| ENST00000589042.5:c.106040A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn35347Ser | |
| ENST00000591111.5:c.101117A>G (TTN) | ENSP00000465570.1:p.Asn33706Ser | |
| ENST00000615779.4:c.101117A>G (TTN) | ENSP00000483597.1:p.Asn33706Ser | |
| NM_001256850.1:c.101117A>G (TTN) | NP_001243779.1:p.Asn33706Ser | |
| NM_001267550.2:c.106040A>G (TTN) MANE Select | NP_001254479.2:p.Asn35347Ser | |
| NM_003319.4:c.78845A>G (TTN) | NP_003310.4:p.Asn26282Ser | |
| NM_133378.4:c.98336A>G (TTN) | NP_596869.4:p.Asn32779Ser | |
| NM_133432.3:c.79220A>G (TTN) | NP_597676.3:p.Asn26407Ser | |
| NM_133437.4:c.79421A>G (TTN) | NP_597681.4:p.Asn26474Ser | |
| NR_038271.1:n.446+6939T>C (TTN-AS1) | ||
| NR_038272.1:n.220-5157T>C (TTN-AS1) | ||
| XM_011511729.1:c.105137A>G (TTN) | XP_011510031.1:p.Asn35046Ser | |
| XM_011511730.1:c.79031A>G (TTN) | XP_011510032.1:p.Asn26344Ser | |
| XM_011511731.1:c.78890A>G (TTN) | XP_011510033.1:p.Asn26297Ser | |
| XM_017004819.1:c.104933A>G (TTN) | XP_016860308.1:p.Asn34978Ser | |
| XM_017004820.1:c.100331A>G (TTN) | XP_016860309.1:p.Asn33444Ser | |
| XM_017004821.1:c.100328A>G (TTN) | XP_016860310.1:p.Asn33443Ser | |
| XM_017004822.1:c.97370A>G (TTN) | XP_016860311.1:p.Asn32457Ser | |
| XM_017004823.1:c.78986A>G (TTN) | XP_016860312.1:p.Asn26329Ser | |
| XM_024453094.1:c.100481A>G (TTN) | XP_024308862.1:p.Asn33494Ser | |
| XM_024453095.1:c.100478A>G (TTN) | XP_024308863.1:p.Asn33493Ser | |
| XM_024453096.1:c.99911A>G (TTN) | XP_024308864.1:p.Asn33304Ser | |
| XM_024453097.1:c.97253A>G (TTN) | XP_024308865.1:p.Asn32418Ser | |
| XM_024453098.1:c.97172A>G (TTN) | XP_024308866.1:p.Asn32391Ser | |
| XM_024453099.1:c.78935A>G (TTN) | XP_024308867.1:p.Asn26312Ser | |
| XM_024453100.1:c.68789A>G (TTN) | XP_024308868.1:p.Asn22930Ser |