Linked Data
ClinVar Variation Id:
178905
dbSNP Id:
rs727504528
ExAC:
2:179412381 T / C
gnomAD v2:
2-179412381-T-C
gnomAD v3:
2-178547654-T-C
gnomAD v4:
2-178547654-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547654T>C , CM000664.2:g.178547654T>C | GRCh38 |
| NC_000002.11:g.179412381T>C , CM000664.1:g.179412381T>C | GRCh37 |
| NC_000002.10:g.179120627T>C | NCBI36 |
| NG_011618.3:g.288149A>G , LRG_391:g.288149A>G | |
| NG_051363.1:g.29828T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86268A>G (TTN) | ENSP00000343764.6:p.Glu28756= | |
| ENST00000342175.11:c.67353A>G (TTN) | ENSP00000340554.6:p.Glu22451= | |
| ENST00000359218.10:c.67152A>G (TTN) | ENSP00000352154.5:p.Glu22384= | |
| ENST00000342175.10:c.67353A>G (TTN) | ENSP00000340554.6:p.Glu22451= | |
| ENST00000342992.10:c.86268A>G (TTN) | ENSP00000343764.6:p.Glu28756= | |
| ENST00000359218.9:c.67152A>G (TTN) | ENSP00000352154.5:p.Glu22384= | |
| ENST00000460472.6:c.66777A>G (TTN) | ENSP00000434586.1:p.Glu22259= | |
| ENST00000589042.5:c.93972A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu31324= | |
| ENST00000591111.5:c.89049A>G (TTN) | ENSP00000465570.1:p.Glu29683= | |
| ENST00000615779.4:c.89049A>G (TTN) | ENSP00000483597.1:p.Glu29683= | |
| NM_001256850.1:c.89049A>G (TTN) | NP_001243779.1:p.Glu29683= | |
| NM_001267550.2:c.93972A>G (TTN) MANE Select | NP_001254479.2:p.Glu31324= | |
| NM_003319.4:c.66777A>G (TTN) | NP_003310.4:p.Glu22259= | |
| NM_133378.4:c.86268A>G (TTN) | NP_596869.4:p.Glu28756= | |
| NM_133432.3:c.67152A>G (TTN) | NP_597676.3:p.Glu22384= | |
| NM_133437.4:c.67353A>G (TTN) | NP_597681.4:p.Glu22451= | |
| NR_038271.1:n.447-23646T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+5293T>C (TTN-AS1) | ||
| XM_011511729.1:c.93069A>G (TTN) | XP_011510031.1:p.Glu31023= | |
| XM_011511730.1:c.66963A>G (TTN) | XP_011510032.1:p.Glu22321= | |
| XM_011511731.1:c.66822A>G (TTN) | XP_011510033.1:p.Glu22274= | |
| XM_017004819.1:c.92865A>G (TTN) | XP_016860308.1:p.Glu30955= | |
| XM_017004820.1:c.88263A>G (TTN) | XP_016860309.1:p.Glu29421= | |
| XM_017004821.1:c.88260A>G (TTN) | XP_016860310.1:p.Glu29420= | |
| XM_017004822.1:c.85302A>G (TTN) | XP_016860311.1:p.Glu28434= | |
| XM_017004823.1:c.66918A>G (TTN) | XP_016860312.1:p.Glu22306= | |
| XM_024453094.1:c.88413A>G (TTN) | XP_024308862.1:p.Glu29471= | |
| XM_024453095.1:c.88410A>G (TTN) | XP_024308863.1:p.Glu29470= | |
| XM_024453096.1:c.87843A>G (TTN) | XP_024308864.1:p.Glu29281= | |
| XM_024453097.1:c.85185A>G (TTN) | XP_024308865.1:p.Glu28395= | |
| XM_024453098.1:c.85104A>G (TTN) | XP_024308866.1:p.Glu28368= | |
| XM_024453099.1:c.66867A>G (TTN) | XP_024308867.1:p.Glu22289= | |
| XM_024453100.1:c.56721A>G (TTN) | XP_024308868.1:p.Glu18907= |