Linked Data
ClinVar Variation Id:
1077879
dbSNP Id:
rs747964050
ExAC:
2:179391835 G / A
gnomAD v2:
2-179391835-G-A
gnomAD v4:
2-178527108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527108G>A , CM000664.2:g.178527108G>A | GRCh38 |
| NC_000002.11:g.179391835G>A , CM000664.1:g.179391835G>A | GRCh37 |
| NC_000002.10:g.179100081G>A | NCBI36 |
| NG_011618.3:g.308695C>T , LRG_391:g.308695C>T | |
| NG_051363.1:g.9282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100176C>T (TTN) | ENSP00000343764.6:p.Asp33392= | |
| ENST00000342175.11:c.81261C>T (TTN) | ENSP00000340554.6:p.Asp27087= | |
| ENST00000359218.10:c.81060C>T (TTN) | ENSP00000352154.5:p.Asp27020= | |
| ENST00000342175.10:c.81261C>T (TTN) | ENSP00000340554.6:p.Asp27087= | |
| ENST00000342992.10:c.100176C>T (TTN) | ENSP00000343764.6:p.Asp33392= | |
| ENST00000359218.9:c.81060C>T (TTN) | ENSP00000352154.5:p.Asp27020= | |
| ENST00000460472.6:c.80685C>T (TTN) | ENSP00000434586.1:p.Asp26895= | |
| ENST00000589042.5:c.107880C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp35960= | |
| ENST00000591111.5:c.102957C>T (TTN) | ENSP00000465570.1:p.Asp34319= | |
| ENST00000615779.4:c.102957C>T (TTN) | ENSP00000483597.1:p.Asp34319= | |
| NM_001256850.1:c.102957C>T (TTN) | NP_001243779.1:p.Asp34319= | |
| NM_001267550.2:c.107880C>T (TTN) MANE Select | NP_001254479.2:p.Asp35960= | |
| NM_003319.4:c.80685C>T (TTN) | NP_003310.4:p.Asp26895= | |
| NM_133378.4:c.100176C>T (TTN) | NP_596869.4:p.Asp33392= | |
| NM_133432.3:c.81060C>T (TTN) | NP_597676.3:p.Asp27020= | |
| NM_133437.4:c.81261C>T (TTN) | NP_597681.4:p.Asp27087= | |
| NR_038271.1:n.446+3472G>A (TTN-AS1) | ||
| NR_038272.1:n.219+3472G>A (TTN-AS1) | ||
| XM_011511729.1:c.106977C>T (TTN) | XP_011510031.1:p.Asp35659= | |
| XM_011511730.1:c.80871C>T (TTN) | XP_011510032.1:p.Asp26957= | |
| XM_011511731.1:c.80730C>T (TTN) | XP_011510033.1:p.Asp26910= | |
| XM_017004819.1:c.106773C>T (TTN) | XP_016860308.1:p.Asp35591= | |
| XM_017004820.1:c.102171C>T (TTN) | XP_016860309.1:p.Asp34057= | |
| XM_017004821.1:c.102168C>T (TTN) | XP_016860310.1:p.Asp34056= | |
| XM_017004822.1:c.99210C>T (TTN) | XP_016860311.1:p.Asp33070= | |
| XM_017004823.1:c.80826C>T (TTN) | XP_016860312.1:p.Asp26942= | |
| XM_024453094.1:c.102321C>T (TTN) | XP_024308862.1:p.Asp34107= | |
| XM_024453095.1:c.102318C>T (TTN) | XP_024308863.1:p.Asp34106= | |
| XM_024453096.1:c.101751C>T (TTN) | XP_024308864.1:p.Asp33917= | |
| XM_024453097.1:c.99093C>T (TTN) | XP_024308865.1:p.Asp33031= | |
| XM_024453098.1:c.99012C>T (TTN) | XP_024308866.1:p.Asp33004= | |
| XM_024453099.1:c.80775C>T (TTN) | XP_024308867.1:p.Asp26925= | |
| XM_024453100.1:c.70629C>T (TTN) | XP_024308868.1:p.Asp23543= |