Linked Data
ClinVar Variation Id:
1302557
dbSNP Id:
rs752066259
ExAC:
2:179407992 T / C
gnomAD v2:
2-179407992-T-C
gnomAD v3:
2-178543265-T-C
gnomAD v4:
2-178543265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543265T>C , CM000664.2:g.178543265T>C | GRCh38 |
| NC_000002.11:g.179407992T>C , CM000664.1:g.179407992T>C | GRCh37 |
| NC_000002.10:g.179116238T>C | NCBI36 |
| NG_011618.3:g.292538A>G , LRG_391:g.292538A>G | |
| NG_051363.1:g.25439T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89004A>G (TTN) | ENSP00000343764.6:p.Gly29668= | |
| ENST00000342175.11:c.70089A>G (TTN) | ENSP00000340554.6:p.Gly23363= | |
| ENST00000359218.10:c.69888A>G (TTN) | ENSP00000352154.5:p.Gly23296= | |
| ENST00000342175.10:c.70089A>G (TTN) | ENSP00000340554.6:p.Gly23363= | |
| ENST00000342992.10:c.89004A>G (TTN) | ENSP00000343764.6:p.Gly29668= | |
| ENST00000359218.9:c.69888A>G (TTN) | ENSP00000352154.5:p.Gly23296= | |
| ENST00000460472.6:c.69513A>G (TTN) | ENSP00000434586.1:p.Gly23171= | |
| ENST00000589042.5:c.96708A>G (TTN) MANE Select | ENSP00000467141.1:p.Gly32236= | |
| ENST00000591111.5:c.91785A>G (TTN) | ENSP00000465570.1:p.Gly30595= | |
| ENST00000615779.4:c.91785A>G (TTN) | ENSP00000483597.1:p.Gly30595= | |
| NM_001256850.1:c.91785A>G (TTN) | NP_001243779.1:p.Gly30595= | |
| NM_001267550.2:c.96708A>G (TTN) MANE Select | NP_001254479.2:p.Gly32236= | |
| NM_003319.4:c.69513A>G (TTN) | NP_003310.4:p.Gly23171= | |
| NM_133378.4:c.89004A>G (TTN) | NP_596869.4:p.Gly29668= | |
| NM_133432.3:c.69888A>G (TTN) | NP_597676.3:p.Gly23296= | |
| NM_133437.4:c.70089A>G (TTN) | NP_597681.4:p.Gly23363= | |
| NR_038271.1:n.446+19629T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+904T>C (TTN-AS1) | ||
| XM_011511729.1:c.95805A>G (TTN) | XP_011510031.1:p.Gly31935= | |
| XM_011511730.1:c.69699A>G (TTN) | XP_011510032.1:p.Gly23233= | |
| XM_011511731.1:c.69558A>G (TTN) | XP_011510033.1:p.Gly23186= | |
| XM_017004819.1:c.95601A>G (TTN) | XP_016860308.1:p.Gly31867= | |
| XM_017004820.1:c.90999A>G (TTN) | XP_016860309.1:p.Gly30333= | |
| XM_017004821.1:c.90996A>G (TTN) | XP_016860310.1:p.Gly30332= | |
| XM_017004822.1:c.88038A>G (TTN) | XP_016860311.1:p.Gly29346= | |
| XM_017004823.1:c.69654A>G (TTN) | XP_016860312.1:p.Gly23218= | |
| XM_024453094.1:c.91149A>G (TTN) | XP_024308862.1:p.Gly30383= | |
| XM_024453095.1:c.91146A>G (TTN) | XP_024308863.1:p.Gly30382= | |
| XM_024453096.1:c.90579A>G (TTN) | XP_024308864.1:p.Gly30193= | |
| XM_024453097.1:c.87921A>G (TTN) | XP_024308865.1:p.Gly29307= | |
| XM_024453098.1:c.87840A>G (TTN) | XP_024308866.1:p.Gly29280= | |
| XM_024453099.1:c.69603A>G (TTN) | XP_024308867.1:p.Gly23201= | |
| XM_024453100.1:c.59457A>G (TTN) | XP_024308868.1:p.Gly19819= |