Linked Data
ClinVar Variation Id:
178185
ClinVar RCV Id:
RCV000154914
RCV000725849
RCV001129843
RCV001129842
RCV001426417
RCV001129844
RCV001129845
RCV001129846
RCV002336325
RCV004534971
dbSNP Id:
rs368270588
ExAC:
2:179432085 T / C
gnomAD v2:
2-179432085-T-C
gnomAD v3:
2-178567358-T-C
gnomAD v4:
2-178567358-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567358T>C , CM000664.2:g.178567358T>C | GRCh38 |
| NC_000002.11:g.179432085T>C , CM000664.1:g.179432085T>C | GRCh37 |
| NC_000002.10:g.179140331T>C | NCBI36 |
| NG_011618.3:g.268445A>G , LRG_391:g.268445A>G | |
| NG_051363.1:g.49532T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71070A>G (TTN) | ENSP00000343764.6:p.Arg23690= | |
| ENST00000342175.11:c.52155A>G (TTN) | ENSP00000340554.6:p.Arg17385= | |
| ENST00000359218.10:c.51954A>G (TTN) | ENSP00000352154.5:p.Arg17318= | |
| ENST00000342175.10:c.52155A>G (TTN) | ENSP00000340554.6:p.Arg17385= | |
| ENST00000342992.10:c.71070A>G (TTN) | ENSP00000343764.6:p.Arg23690= | |
| ENST00000359218.9:c.51954A>G (TTN) | ENSP00000352154.5:p.Arg17318= | |
| ENST00000460472.6:c.51579A>G (TTN) | ENSP00000434586.1:p.Arg17193= | |
| ENST00000589042.5:c.78774A>G (TTN) MANE Select | ENSP00000467141.1:p.Arg26258= | |
| ENST00000591111.5:c.73851A>G (TTN) | ENSP00000465570.1:p.Arg24617= | |
| ENST00000615779.4:c.73851A>G (TTN) | ENSP00000483597.1:p.Arg24617= | |
| NM_001256850.1:c.73851A>G (TTN) | NP_001243779.1:p.Arg24617= | |
| NM_001267550.2:c.78774A>G (TTN) MANE Select | NP_001254479.2:p.Arg26258= | |
| NM_003319.4:c.51579A>G (TTN) | NP_003310.4:p.Arg17193= | |
| NM_133378.4:c.71070A>G (TTN) | NP_596869.4:p.Arg23690= | |
| NM_133432.3:c.51954A>G (TTN) | NP_597676.3:p.Arg17318= | |
| NM_133437.4:c.52155A>G (TTN) | NP_597681.4:p.Arg17385= | |
| NR_038271.1:n.447-3942T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-15214T>C (TTN-AS1) | ||
| XM_011511729.1:c.77871A>G (TTN) | XP_011510031.1:p.Arg25957= | |
| XM_011511730.1:c.51765A>G (TTN) | XP_011510032.1:p.Arg17255= | |
| XM_011511731.1:c.51624A>G (TTN) | XP_011510033.1:p.Arg17208= | |
| XM_017004819.1:c.77667A>G (TTN) | XP_016860308.1:p.Arg25889= | |
| XM_017004820.1:c.73065A>G (TTN) | XP_016860309.1:p.Arg24355= | |
| XM_017004821.1:c.73062A>G (TTN) | XP_016860310.1:p.Arg24354= | |
| XM_017004822.1:c.70104A>G (TTN) | XP_016860311.1:p.Arg23368= | |
| XM_017004823.1:c.51720A>G (TTN) | XP_016860312.1:p.Arg17240= | |
| XM_024453094.1:c.73215A>G (TTN) | XP_024308862.1:p.Arg24405= | |
| XM_024453095.1:c.73212A>G (TTN) | XP_024308863.1:p.Arg24404= | |
| XM_024453096.1:c.72645A>G (TTN) | XP_024308864.1:p.Arg24215= | |
| XM_024453097.1:c.69987A>G (TTN) | XP_024308865.1:p.Arg23329= | |
| XM_024453098.1:c.69906A>G (TTN) | XP_024308866.1:p.Arg23302= | |
| XM_024453099.1:c.51669A>G (TTN) | XP_024308867.1:p.Arg17223= | |
| XM_024453100.1:c.41523A>G (TTN) | XP_024308868.1:p.Arg13841= |