Linked Data
ClinVar Variation Id:
332806
ClinVar RCV Id:
RCV000273244
RCV000310901
RCV000325941
RCV000365624
RCV000404582
RCV000643671
RCV002365396
RCV003335308
dbSNP Id:
rs745626132
ExAC:
2:179448499 A / G
gnomAD v2:
2-179448499-A-G
gnomAD v3:
2-178583772-A-G
gnomAD v4:
2-178583772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583772A>G , CM000664.2:g.178583772A>G | GRCh38 |
| NC_000002.11:g.179448499A>G , CM000664.1:g.179448499A>G | GRCh37 |
| NC_000002.10:g.179156745A>G | NCBI36 |
| NG_011618.3:g.252031T>C , LRG_391:g.252031T>C | |
| NG_051363.1:g.65946A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57706T>C (TTN) | ENSP00000343764.6:p.Trp19236Arg | |
| ENST00000342175.11:c.38791T>C (TTN) | ENSP00000340554.6:p.Trp12931Arg | |
| ENST00000359218.10:c.38590T>C (TTN) | ENSP00000352154.5:p.Trp12864Arg | |
| ENST00000342175.10:c.38791T>C (TTN) | ENSP00000340554.6:p.Trp12931Arg | |
| ENST00000342992.10:c.57706T>C (TTN) | ENSP00000343764.6:p.Trp19236Arg | |
| ENST00000359218.9:c.38590T>C (TTN) | ENSP00000352154.5:p.Trp12864Arg | |
| ENST00000460472.6:c.38215T>C (TTN) | ENSP00000434586.1:p.Trp12739Arg | |
| ENST00000589042.5:c.65410T>C (TTN) MANE Select | ENSP00000467141.1:p.Trp21804Arg | |
| ENST00000591111.5:c.60487T>C (TTN) | ENSP00000465570.1:p.Trp20163Arg | |
| ENST00000615779.4:c.60487T>C (TTN) | ENSP00000483597.1:p.Trp20163Arg | |
| NM_001256850.1:c.60487T>C (TTN) | NP_001243779.1:p.Trp20163Arg | |
| NM_001267550.2:c.65410T>C (TTN) MANE Select | NP_001254479.2:p.Trp21804Arg | |
| NM_003319.4:c.38215T>C (TTN) | NP_003310.4:p.Trp12739Arg | |
| NM_133378.4:c.57706T>C (TTN) | NP_596869.4:p.Trp19236Arg | |
| NM_133432.3:c.38590T>C (TTN) | NP_597676.3:p.Trp12864Arg | |
| NM_133437.4:c.38791T>C (TTN) | NP_597681.4:p.Trp12931Arg | |
| NR_038271.1:n.596+12323A>G (TTN-AS1) | ||
| NR_038272.1:n.2618A>G (TTN-AS1) | ||
| XM_011511729.1:c.64507T>C (TTN) | XP_011510031.1:p.Trp21503Arg | |
| XM_011511730.1:c.38401T>C (TTN) | XP_011510032.1:p.Trp12801Arg | |
| XM_011511731.1:c.38260T>C (TTN) | XP_011510033.1:p.Trp12754Arg | |
| XM_017004819.1:c.64303T>C (TTN) | XP_016860308.1:p.Trp21435Arg | |
| XM_017004820.1:c.59701T>C (TTN) | XP_016860309.1:p.Trp19901Arg | |
| XM_017004821.1:c.59698T>C (TTN) | XP_016860310.1:p.Trp19900Arg | |
| XM_017004822.1:c.56740T>C (TTN) | XP_016860311.1:p.Trp18914Arg | |
| XM_017004823.1:c.38356T>C (TTN) | XP_016860312.1:p.Trp12786Arg | |
| XM_024453094.1:c.59851T>C (TTN) | XP_024308862.1:p.Trp19951Arg | |
| XM_024453095.1:c.59848T>C (TTN) | XP_024308863.1:p.Trp19950Arg | |
| XM_024453096.1:c.59281T>C (TTN) | XP_024308864.1:p.Trp19761Arg | |
| XM_024453097.1:c.56623T>C (TTN) | XP_024308865.1:p.Trp18875Arg | |
| XM_024453098.1:c.56542T>C (TTN) | XP_024308866.1:p.Trp18848Arg | |
| XM_024453099.1:c.38305T>C (TTN) | XP_024308867.1:p.Trp12769Arg | |
| XM_024453100.1:c.28159T>C (TTN) | XP_024308868.1:p.Trp9387Arg |