Linked Data
ClinVar Variation Id:
404829
dbSNP Id:
rs773776767
ExAC:
2:179404946 C / G
gnomAD v2:
2-179404946-C-G
gnomAD v3:
2-178540219-C-G
gnomAD v4:
2-178540219-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178540219C>G , CM000664.2:g.178540219C>G | GRCh38 |
| NC_000002.11:g.179404946C>G , CM000664.1:g.179404946C>G | GRCh37 |
| NC_000002.10:g.179113192C>G | NCBI36 |
| NG_011618.3:g.295584G>C , LRG_391:g.295584G>C | |
| NG_051363.1:g.22393C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90243G>C (TTN) | ENSP00000343764.6:p.Lys30081Asn | |
| ENST00000342175.11:c.71328G>C (TTN) | ENSP00000340554.6:p.Lys23776Asn | |
| ENST00000359218.10:c.71127G>C (TTN) | ENSP00000352154.5:p.Lys23709Asn | |
| ENST00000342175.10:c.71328G>C (TTN) | ENSP00000340554.6:p.Lys23776Asn | |
| ENST00000342992.10:c.90243G>C (TTN) | ENSP00000343764.6:p.Lys30081Asn | |
| ENST00000359218.9:c.71127G>C (TTN) | ENSP00000352154.5:p.Lys23709Asn | |
| ENST00000460472.6:c.70752G>C (TTN) | ENSP00000434586.1:p.Lys23584Asn | |
| ENST00000589042.5:c.97947G>C (TTN) MANE Select | ENSP00000467141.1:p.Lys32649Asn | |
| ENST00000591111.5:c.93024G>C (TTN) | ENSP00000465570.1:p.Lys31008Asn | |
| ENST00000615779.4:c.93024G>C (TTN) | ENSP00000483597.1:p.Lys31008Asn | |
| NM_001256850.1:c.93024G>C (TTN) | NP_001243779.1:p.Lys31008Asn | |
| NM_001267550.2:c.97947G>C (TTN) MANE Select | NP_001254479.2:p.Lys32649Asn | |
| NM_003319.4:c.70752G>C (TTN) | NP_003310.4:p.Lys23584Asn | |
| NM_133378.4:c.90243G>C (TTN) | NP_596869.4:p.Lys30081Asn | |
| NM_133432.3:c.71127G>C (TTN) | NP_597676.3:p.Lys23709Asn | |
| NM_133437.4:c.71328G>C (TTN) | NP_597681.4:p.Lys23776Asn | |
| NR_038271.1:n.446+16583C>G (TTN-AS1) | ||
| NR_038272.1:n.1903+50C>G (TTN-AS1) | ||
| XM_011511729.1:c.97044G>C (TTN) | XP_011510031.1:p.Lys32348Asn | |
| XM_011511730.1:c.70938G>C (TTN) | XP_011510032.1:p.Lys23646Asn | |
| XM_011511731.1:c.70797G>C (TTN) | XP_011510033.1:p.Lys23599Asn | |
| XM_017004819.1:c.96840G>C (TTN) | XP_016860308.1:p.Lys32280Asn | |
| XM_017004820.1:c.92238G>C (TTN) | XP_016860309.1:p.Lys30746Asn | |
| XM_017004821.1:c.92235G>C (TTN) | XP_016860310.1:p.Lys30745Asn | |
| XM_017004822.1:c.89277G>C (TTN) | XP_016860311.1:p.Lys29759Asn | |
| XM_017004823.1:c.70893G>C (TTN) | XP_016860312.1:p.Lys23631Asn | |
| XM_024453094.1:c.92388G>C (TTN) | XP_024308862.1:p.Lys30796Asn | |
| XM_024453095.1:c.92385G>C (TTN) | XP_024308863.1:p.Lys30795Asn | |
| XM_024453096.1:c.91818G>C (TTN) | XP_024308864.1:p.Lys30606Asn | |
| XM_024453097.1:c.89160G>C (TTN) | XP_024308865.1:p.Lys29720Asn | |
| XM_024453098.1:c.89079G>C (TTN) | XP_024308866.1:p.Lys29693Asn | |
| XM_024453099.1:c.70842G>C (TTN) | XP_024308867.1:p.Lys23614Asn | |
| XM_024453100.1:c.60696G>C (TTN) | XP_024308868.1:p.Lys20232Asn |