Linked Data
ClinVar Variation Id:
332726
dbSNP Id:
rs886055230
gnomAD v3:
2-178547587-C-G
gnomAD v4:
2-178547587-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547587C>G , CM000664.2:g.178547587C>G | GRCh38 |
| NC_000002.11:g.179412314C>G , CM000664.1:g.179412314C>G | GRCh37 |
| NC_000002.10:g.179120560C>G | NCBI36 |
| NG_011618.3:g.288216G>C , LRG_391:g.288216G>C | |
| NG_051363.1:g.29761C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.86335G>C (TTN) | ENSP00000343764.6:p.Glu28779Gln | |
| ENST00000342175.11:c.67420G>C (TTN) | ENSP00000340554.6:p.Glu22474Gln | |
| ENST00000359218.10:c.67219G>C (TTN) | ENSP00000352154.5:p.Glu22407Gln | |
| ENST00000342175.10:c.67420G>C (TTN) | ENSP00000340554.6:p.Glu22474Gln | |
| ENST00000342992.10:c.86335G>C (TTN) | ENSP00000343764.6:p.Glu28779Gln | |
| ENST00000359218.9:c.67219G>C (TTN) | ENSP00000352154.5:p.Glu22407Gln | |
| ENST00000460472.6:c.66844G>C (TTN) | ENSP00000434586.1:p.Glu22282Gln | |
| ENST00000589042.5:c.94039G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu31347Gln | |
| ENST00000591111.5:c.89116G>C (TTN) | ENSP00000465570.1:p.Glu29706Gln | |
| ENST00000615779.4:c.89116G>C (TTN) | ENSP00000483597.1:p.Glu29706Gln | |
| NM_001256850.1:c.89116G>C (TTN) | NP_001243779.1:p.Glu29706Gln | |
| NM_001267550.2:c.94039G>C (TTN) MANE Select | NP_001254479.2:p.Glu31347Gln | |
| NM_003319.4:c.66844G>C (TTN) | NP_003310.4:p.Glu22282Gln | |
| NM_133378.4:c.86335G>C (TTN) | NP_596869.4:p.Glu28779Gln | |
| NM_133432.3:c.67219G>C (TTN) | NP_597676.3:p.Glu22407Gln | |
| NM_133437.4:c.67420G>C (TTN) | NP_597681.4:p.Glu22474Gln | |
| NR_038271.1:n.447-23713C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+5226C>G (TTN-AS1) | ||
| XM_011511729.1:c.93136G>C (TTN) | XP_011510031.1:p.Glu31046Gln | |
| XM_011511730.1:c.67030G>C (TTN) | XP_011510032.1:p.Glu22344Gln | |
| XM_011511731.1:c.66889G>C (TTN) | XP_011510033.1:p.Glu22297Gln | |
| XM_017004819.1:c.92932G>C (TTN) | XP_016860308.1:p.Glu30978Gln | |
| XM_017004820.1:c.88330G>C (TTN) | XP_016860309.1:p.Glu29444Gln | |
| XM_017004821.1:c.88327G>C (TTN) | XP_016860310.1:p.Glu29443Gln | |
| XM_017004822.1:c.85369G>C (TTN) | XP_016860311.1:p.Glu28457Gln | |
| XM_017004823.1:c.66985G>C (TTN) | XP_016860312.1:p.Glu22329Gln | |
| XM_024453094.1:c.88480G>C (TTN) | XP_024308862.1:p.Glu29494Gln | |
| XM_024453095.1:c.88477G>C (TTN) | XP_024308863.1:p.Glu29493Gln | |
| XM_024453096.1:c.87910G>C (TTN) | XP_024308864.1:p.Glu29304Gln | |
| XM_024453097.1:c.85252G>C (TTN) | XP_024308865.1:p.Glu28418Gln | |
| XM_024453098.1:c.85171G>C (TTN) | XP_024308866.1:p.Glu28391Gln | |
| XM_024453099.1:c.66934G>C (TTN) | XP_024308867.1:p.Glu22312Gln | |
| XM_024453100.1:c.56788G>C (TTN) | XP_024308868.1:p.Glu18930Gln |