Linked Data
ClinVar Variation Id:
96323
dbSNP Id:
rs190967471
ExAC:
2:179403836 G / C
gnomAD v2:
2-179403836-G-C
gnomAD v3:
2-178539109-G-C
gnomAD v4:
2-178539109-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539109G>C , CM000664.2:g.178539109G>C | GRCh38 |
| NC_000002.11:g.179403836G>C , CM000664.1:g.179403836G>C | GRCh37 |
| NC_000002.10:g.179112082G>C | NCBI36 |
| NG_011618.3:g.296694C>G , LRG_391:g.296694C>G | |
| NG_051363.1:g.21283G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91122C>G (TTN) | ENSP00000343764.6:p.Asp30374Glu | |
| ENST00000342175.11:c.72207C>G (TTN) | ENSP00000340554.6:p.Asp24069Glu | |
| ENST00000359218.10:c.72006C>G (TTN) | ENSP00000352154.5:p.Asp24002Glu | |
| ENST00000342175.10:c.72207C>G (TTN) | ENSP00000340554.6:p.Asp24069Glu | |
| ENST00000342992.10:c.91122C>G (TTN) | ENSP00000343764.6:p.Asp30374Glu | |
| ENST00000359218.9:c.72006C>G (TTN) | ENSP00000352154.5:p.Asp24002Glu | |
| ENST00000460472.6:c.71631C>G (TTN) | ENSP00000434586.1:p.Asp23877Glu | |
| ENST00000589042.5:c.98826C>G (TTN) MANE Select | ENSP00000467141.1:p.Asp32942Glu | |
| ENST00000591111.5:c.93903C>G (TTN) | ENSP00000465570.1:p.Asp31301Glu | |
| ENST00000615779.4:c.93903C>G (TTN) | ENSP00000483597.1:p.Asp31301Glu | |
| NM_001256850.1:c.93903C>G (TTN) | NP_001243779.1:p.Asp31301Glu | |
| NM_001267550.2:c.98826C>G (TTN) MANE Select | NP_001254479.2:p.Asp32942Glu | |
| NM_003319.4:c.71631C>G (TTN) | NP_003310.4:p.Asp23877Glu | |
| NM_133378.4:c.91122C>G (TTN) | NP_596869.4:p.Asp30374Glu | |
| NM_133432.3:c.72006C>G (TTN) | NP_597676.3:p.Asp24002Glu | |
| NM_133437.4:c.72207C>G (TTN) | NP_597681.4:p.Asp24069Glu | |
| NR_038271.1:n.446+15473G>C (TTN-AS1) | ||
| NR_038272.1:n.1059G>C (TTN-AS1) | ||
| XM_011511729.1:c.97923C>G (TTN) | XP_011510031.1:p.Asp32641Glu | |
| XM_011511730.1:c.71817C>G (TTN) | XP_011510032.1:p.Asp23939Glu | |
| XM_011511731.1:c.71676C>G (TTN) | XP_011510033.1:p.Asp23892Glu | |
| XM_017004819.1:c.97719C>G (TTN) | XP_016860308.1:p.Asp32573Glu | |
| XM_017004820.1:c.93117C>G (TTN) | XP_016860309.1:p.Asp31039Glu | |
| XM_017004821.1:c.93114C>G (TTN) | XP_016860310.1:p.Asp31038Glu | |
| XM_017004822.1:c.90156C>G (TTN) | XP_016860311.1:p.Asp30052Glu | |
| XM_017004823.1:c.71772C>G (TTN) | XP_016860312.1:p.Asp23924Glu | |
| XM_024453094.1:c.93267C>G (TTN) | XP_024308862.1:p.Asp31089Glu | |
| XM_024453095.1:c.93264C>G (TTN) | XP_024308863.1:p.Asp31088Glu | |
| XM_024453096.1:c.92697C>G (TTN) | XP_024308864.1:p.Asp30899Glu | |
| XM_024453097.1:c.90039C>G (TTN) | XP_024308865.1:p.Asp30013Glu | |
| XM_024453098.1:c.89958C>G (TTN) | XP_024308866.1:p.Asp29986Glu | |
| XM_024453099.1:c.71721C>G (TTN) | XP_024308867.1:p.Asp23907Glu | |
| XM_024453100.1:c.61575C>G (TTN) | XP_024308868.1:p.Asp20525Glu |