Linked Data
ClinVar Variation Id:
195923
ClinVar RCV Id:
RCV000176608
RCV000724772
RCV001085918
RCV001130334
RCV001130333
RCV001131024
RCV001131025
RCV001130332
RCV001170818
dbSNP Id:
rs374168580
ExAC:
2:179452861 A / G
gnomAD v2:
2-179452861-A-G
gnomAD v3:
2-178588134-A-G
gnomAD v4:
2-178588134-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588134A>G , CM000664.2:g.178588134A>G | GRCh38 |
| NC_000002.11:g.179452861A>G , CM000664.1:g.179452861A>G | GRCh37 |
| NC_000002.10:g.179161107A>G | NCBI36 |
| NG_011618.3:g.247669T>C , LRG_391:g.247669T>C | |
| NG_051363.1:g.70308A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55569T>C (TTN) | ENSP00000343764.6:p.Asp18523= | |
| ENST00000342175.11:c.36654T>C (TTN) | ENSP00000340554.6:p.Asp12218= | |
| ENST00000359218.10:c.36453T>C (TTN) | ENSP00000352154.5:p.Asp12151= | |
| ENST00000342175.10:c.36654T>C (TTN) | ENSP00000340554.6:p.Asp12218= | |
| ENST00000342992.10:c.55569T>C (TTN) | ENSP00000343764.6:p.Asp18523= | |
| ENST00000359218.9:c.36453T>C (TTN) | ENSP00000352154.5:p.Asp12151= | |
| ENST00000460472.6:c.36078T>C (TTN) | ENSP00000434586.1:p.Asp12026= | |
| ENST00000589042.5:c.63273T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp21091= | |
| ENST00000591111.5:c.58350T>C (TTN) | ENSP00000465570.1:p.Asp19450= | |
| ENST00000615779.4:c.58350T>C (TTN) | ENSP00000483597.1:p.Asp19450= | |
| NM_001256850.1:c.58350T>C (TTN) | NP_001243779.1:p.Asp19450= | |
| NM_001267550.2:c.63273T>C (TTN) MANE Select | NP_001254479.2:p.Asp21091= | |
| NM_003319.4:c.36078T>C (TTN) | NP_003310.4:p.Asp12026= | |
| NM_133378.4:c.55569T>C (TTN) | NP_596869.4:p.Asp18523= | |
| NM_133432.3:c.36453T>C (TTN) | NP_597676.3:p.Asp12151= | |
| NM_133437.4:c.36654T>C (TTN) | NP_597681.4:p.Asp12218= | |
| NR_038271.1:n.597-9462A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-3005A>G (TTN-AS1) | ||
| XM_011511729.1:c.62370T>C (TTN) | XP_011510031.1:p.Asp20790= | |
| XM_011511730.1:c.36264T>C (TTN) | XP_011510032.1:p.Asp12088= | |
| XM_011511731.1:c.36123T>C (TTN) | XP_011510033.1:p.Asp12041= | |
| XM_017004819.1:c.62166T>C (TTN) | XP_016860308.1:p.Asp20722= | |
| XM_017004820.1:c.57564T>C (TTN) | XP_016860309.1:p.Asp19188= | |
| XM_017004821.1:c.57561T>C (TTN) | XP_016860310.1:p.Asp19187= | |
| XM_017004822.1:c.54603T>C (TTN) | XP_016860311.1:p.Asp18201= | |
| XM_017004823.1:c.36219T>C (TTN) | XP_016860312.1:p.Asp12073= | |
| XM_024453094.1:c.57714T>C (TTN) | XP_024308862.1:p.Asp19238= | |
| XM_024453095.1:c.57711T>C (TTN) | XP_024308863.1:p.Asp19237= | |
| XM_024453096.1:c.57144T>C (TTN) | XP_024308864.1:p.Asp19048= | |
| XM_024453097.1:c.54486T>C (TTN) | XP_024308865.1:p.Asp18162= | |
| XM_024453098.1:c.54405T>C (TTN) | XP_024308866.1:p.Asp18135= | |
| XM_024453099.1:c.36168T>C (TTN) | XP_024308867.1:p.Asp12056= | |
| XM_024453100.1:c.26022T>C (TTN) | XP_024308868.1:p.Asp8674= |