Linked Data
ClinVar Variation Id:
47522
ClinVar RCV Id:
RCV000040791
RCV000726970
RCV000643343
RCV001129835
RCV001129836
RCV001129837
RCV001129838
RCV001129839
RCV002362645
RCV003486608
dbSNP Id:
rs201019681
ExAC:
2:179414020 G / C
gnomAD v2:
2-179414020-G-C
gnomAD v3:
2-178549293-G-C
gnomAD v4:
2-178549293-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549293G>C , CM000664.2:g.178549293G>C | GRCh38 |
| NC_000002.11:g.179414020G>C , CM000664.1:g.179414020G>C | GRCh37 |
| NC_000002.10:g.179122266G>C | NCBI36 |
| NG_011618.3:g.286510C>G , LRG_391:g.286510C>G | |
| NG_051363.1:g.31467G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84629C>G (TTN) | ENSP00000343764.6:p.Thr28210Arg | |
| ENST00000342175.11:c.65714C>G (TTN) | ENSP00000340554.6:p.Thr21905Arg | |
| ENST00000359218.10:c.65513C>G (TTN) | ENSP00000352154.5:p.Thr21838Arg | |
| ENST00000342175.10:c.65714C>G (TTN) | ENSP00000340554.6:p.Thr21905Arg | |
| ENST00000342992.10:c.84629C>G (TTN) | ENSP00000343764.6:p.Thr28210Arg | |
| ENST00000359218.9:c.65513C>G (TTN) | ENSP00000352154.5:p.Thr21838Arg | |
| ENST00000460472.6:c.65138C>G (TTN) | ENSP00000434586.1:p.Thr21713Arg | |
| ENST00000589042.5:c.92333C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr30778Arg | |
| ENST00000591111.5:c.87410C>G (TTN) | ENSP00000465570.1:p.Thr29137Arg | |
| ENST00000615779.4:c.87410C>G (TTN) | ENSP00000483597.1:p.Thr29137Arg | |
| NM_001256850.1:c.87410C>G (TTN) | NP_001243779.1:p.Thr29137Arg | |
| NM_001267550.2:c.92333C>G (TTN) MANE Select | NP_001254479.2:p.Thr30778Arg | |
| NM_003319.4:c.65138C>G (TTN) | NP_003310.4:p.Thr21713Arg | |
| NM_133378.4:c.84629C>G (TTN) | NP_596869.4:p.Thr28210Arg | |
| NM_133432.3:c.65513C>G (TTN) | NP_597676.3:p.Thr21838Arg | |
| NM_133437.4:c.65714C>G (TTN) | NP_597681.4:p.Thr21905Arg | |
| NR_038271.1:n.447-22007G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+6932G>C (TTN-AS1) | ||
| XM_011511729.1:c.91430C>G (TTN) | XP_011510031.1:p.Thr30477Arg | |
| XM_011511730.1:c.65324C>G (TTN) | XP_011510032.1:p.Thr21775Arg | |
| XM_011511731.1:c.65183C>G (TTN) | XP_011510033.1:p.Thr21728Arg | |
| XM_017004819.1:c.91226C>G (TTN) | XP_016860308.1:p.Thr30409Arg | |
| XM_017004820.1:c.86624C>G (TTN) | XP_016860309.1:p.Thr28875Arg | |
| XM_017004821.1:c.86621C>G (TTN) | XP_016860310.1:p.Thr28874Arg | |
| XM_017004822.1:c.83663C>G (TTN) | XP_016860311.1:p.Thr27888Arg | |
| XM_017004823.1:c.65279C>G (TTN) | XP_016860312.1:p.Thr21760Arg | |
| XM_024453094.1:c.86774C>G (TTN) | XP_024308862.1:p.Thr28925Arg | |
| XM_024453095.1:c.86771C>G (TTN) | XP_024308863.1:p.Thr28924Arg | |
| XM_024453096.1:c.86204C>G (TTN) | XP_024308864.1:p.Thr28735Arg | |
| XM_024453097.1:c.83546C>G (TTN) | XP_024308865.1:p.Thr27849Arg | |
| XM_024453098.1:c.83465C>G (TTN) | XP_024308866.1:p.Thr27822Arg | |
| XM_024453099.1:c.65228C>G (TTN) | XP_024308867.1:p.Thr21743Arg | |
| XM_024453100.1:c.55082C>G (TTN) | XP_024308868.1:p.Thr18361Arg |