Linked Data
ClinVar Variation Id:
238849
ClinVar RCV Id:
RCV000230162
RCV000306715
RCV000266392
RCV000270343
RCV000361378
RCV000376043
RCV000769930
dbSNP Id:
rs779878975
ExAC:
2:179429918 G / A
gnomAD v2:
2-179429918-G-A
gnomAD v3:
2-178565191-G-A
gnomAD v4:
2-178565191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565191G>A , CM000664.2:g.178565191G>A | GRCh38 |
| NC_000002.11:g.179429918G>A , CM000664.1:g.179429918G>A | GRCh37 |
| NC_000002.10:g.179138164G>A | NCBI36 |
| NG_011618.3:g.270612C>T , LRG_391:g.270612C>T | |
| NG_051363.1:g.47365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73237C>T (TTN) | ENSP00000343764.6:p.Arg24413Trp | |
| ENST00000342175.11:c.54322C>T (TTN) | ENSP00000340554.6:p.Arg18108Trp | |
| ENST00000359218.10:c.54121C>T (TTN) | ENSP00000352154.5:p.Arg18041Trp | |
| ENST00000342175.10:c.54322C>T (TTN) | ENSP00000340554.6:p.Arg18108Trp | |
| ENST00000342992.10:c.73237C>T (TTN) | ENSP00000343764.6:p.Arg24413Trp | |
| ENST00000359218.9:c.54121C>T (TTN) | ENSP00000352154.5:p.Arg18041Trp | |
| ENST00000460472.6:c.53746C>T (TTN) | ENSP00000434586.1:p.Arg17916Trp | |
| ENST00000589042.5:c.80941C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26981Trp | |
| ENST00000591111.5:c.76018C>T (TTN) | ENSP00000465570.1:p.Arg25340Trp | |
| ENST00000615779.4:c.76018C>T (TTN) | ENSP00000483597.1:p.Arg25340Trp | |
| NM_001256850.1:c.76018C>T (TTN) | NP_001243779.1:p.Arg25340Trp | |
| NM_001267550.2:c.80941C>T (TTN) MANE Select | NP_001254479.2:p.Arg26981Trp | |
| NM_003319.4:c.53746C>T (TTN) | NP_003310.4:p.Arg17916Trp | |
| NM_133378.4:c.73237C>T (TTN) | NP_596869.4:p.Arg24413Trp | |
| NM_133432.3:c.54121C>T (TTN) | NP_597676.3:p.Arg18041Trp | |
| NM_133437.4:c.54322C>T (TTN) | NP_597681.4:p.Arg18108Trp | |
| NR_038271.1:n.447-6109G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17381G>A (TTN-AS1) | ||
| XM_011511729.1:c.80038C>T (TTN) | XP_011510031.1:p.Arg26680Trp | |
| XM_011511730.1:c.53932C>T (TTN) | XP_011510032.1:p.Arg17978Trp | |
| XM_011511731.1:c.53791C>T (TTN) | XP_011510033.1:p.Arg17931Trp | |
| XM_017004819.1:c.79834C>T (TTN) | XP_016860308.1:p.Arg26612Trp | |
| XM_017004820.1:c.75232C>T (TTN) | XP_016860309.1:p.Arg25078Trp | |
| XM_017004821.1:c.75229C>T (TTN) | XP_016860310.1:p.Arg25077Trp | |
| XM_017004822.1:c.72271C>T (TTN) | XP_016860311.1:p.Arg24091Trp | |
| XM_017004823.1:c.53887C>T (TTN) | XP_016860312.1:p.Arg17963Trp | |
| XM_024453094.1:c.75382C>T (TTN) | XP_024308862.1:p.Arg25128Trp | |
| XM_024453095.1:c.75379C>T (TTN) | XP_024308863.1:p.Arg25127Trp | |
| XM_024453096.1:c.74812C>T (TTN) | XP_024308864.1:p.Arg24938Trp | |
| XM_024453097.1:c.72154C>T (TTN) | XP_024308865.1:p.Arg24052Trp | |
| XM_024453098.1:c.72073C>T (TTN) | XP_024308866.1:p.Arg24025Trp | |
| XM_024453099.1:c.53836C>T (TTN) | XP_024308867.1:p.Arg17946Trp | |
| XM_024453100.1:c.43690C>T (TTN) | XP_024308868.1:p.Arg14564Trp |