Linked Data
ClinVar Variation Id:
332783
ClinVar RCV Id:
RCV000276928
RCV000325387
RCV000330878
RCV000369107
RCV000382277
RCV000469841
RCV000512928
RCV001280555
RCV002338923
RCV003150163
dbSNP Id:
rs72646898
ExAC:
2:179436257 T / C
gnomAD v2:
2-179436257-T-C
gnomAD v3:
2-178571530-T-C
gnomAD v4:
2-178571530-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571530T>C , CM000664.2:g.178571530T>C | GRCh38 |
| NC_000002.11:g.179436257T>C , CM000664.1:g.179436257T>C | GRCh37 |
| NC_000002.10:g.179144503T>C | NCBI36 |
| NG_011618.3:g.264273A>G , LRG_391:g.264273A>G | |
| NG_051363.1:g.53704T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66898A>G (TTN) | ENSP00000343764.6:p.Ile22300Val | |
| ENST00000342175.11:c.47983A>G (TTN) | ENSP00000340554.6:p.Ile15995Val | |
| ENST00000359218.10:c.47782A>G (TTN) | ENSP00000352154.5:p.Ile15928Val | |
| ENST00000342175.10:c.47983A>G (TTN) | ENSP00000340554.6:p.Ile15995Val | |
| ENST00000342992.10:c.66898A>G (TTN) | ENSP00000343764.6:p.Ile22300Val | |
| ENST00000359218.9:c.47782A>G (TTN) | ENSP00000352154.5:p.Ile15928Val | |
| ENST00000460472.6:c.47407A>G (TTN) | ENSP00000434586.1:p.Ile15803Val | |
| ENST00000589042.5:c.74602A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile24868Val | |
| ENST00000591111.5:c.69679A>G (TTN) | ENSP00000465570.1:p.Ile23227Val | |
| ENST00000615779.4:c.69679A>G (TTN) | ENSP00000483597.1:p.Ile23227Val | |
| NM_001256850.1:c.69679A>G (TTN) | NP_001243779.1:p.Ile23227Val | |
| NM_001267550.2:c.74602A>G (TTN) MANE Select | NP_001254479.2:p.Ile24868Val | |
| NM_003319.4:c.47407A>G (TTN) | NP_003310.4:p.Ile15803Val | |
| NM_133378.4:c.66898A>G (TTN) | NP_596869.4:p.Ile22300Val | |
| NM_133432.3:c.47782A>G (TTN) | NP_597676.3:p.Ile15928Val | |
| NM_133437.4:c.47983A>G (TTN) | NP_597681.4:p.Ile15995Val | |
| NR_038271.1:n.596+81T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-11042T>C (TTN-AS1) | ||
| XM_011511729.1:c.73699A>G (TTN) | XP_011510031.1:p.Ile24567Val | |
| XM_011511730.1:c.47593A>G (TTN) | XP_011510032.1:p.Ile15865Val | |
| XM_011511731.1:c.47452A>G (TTN) | XP_011510033.1:p.Ile15818Val | |
| XM_017004819.1:c.73495A>G (TTN) | XP_016860308.1:p.Ile24499Val | |
| XM_017004820.1:c.68893A>G (TTN) | XP_016860309.1:p.Ile22965Val | |
| XM_017004821.1:c.68890A>G (TTN) | XP_016860310.1:p.Ile22964Val | |
| XM_017004822.1:c.65932A>G (TTN) | XP_016860311.1:p.Ile21978Val | |
| XM_017004823.1:c.47548A>G (TTN) | XP_016860312.1:p.Ile15850Val | |
| XM_024453094.1:c.69043A>G (TTN) | XP_024308862.1:p.Ile23015Val | |
| XM_024453095.1:c.69040A>G (TTN) | XP_024308863.1:p.Ile23014Val | |
| XM_024453096.1:c.68473A>G (TTN) | XP_024308864.1:p.Ile22825Val | |
| XM_024453097.1:c.65815A>G (TTN) | XP_024308865.1:p.Ile21939Val | |
| XM_024453098.1:c.65734A>G (TTN) | XP_024308866.1:p.Ile21912Val | |
| XM_024453099.1:c.47497A>G (TTN) | XP_024308867.1:p.Ile15833Val | |
| XM_024453100.1:c.37351A>G (TTN) | XP_024308868.1:p.Ile12451Val |