Linked Data
ClinVar Variation Id:
467206
dbSNP Id:
rs748917057
ExAC:
2:179480083 G / A
gnomAD v2:
2-179480083-G-A
gnomAD v3:
2-178615356-G-A
gnomAD v4:
2-178615356-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615356G>A , CM000664.2:g.178615356G>A | GRCh38 |
| NC_000002.11:g.179480083G>A , CM000664.1:g.179480083G>A | GRCh37 |
| NC_000002.10:g.179188328G>A | NCBI36 |
| NG_011618.3:g.220447C>T , LRG_391:g.220447C>T | |
| NG_051363.1:g.97530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40885C>T (TTN) | ENSP00000343764.6:p.Arg13629Cys | |
| ENST00000342175.11:c.21970C>T (TTN) | ENSP00000340554.6:p.Arg7324Cys | |
| ENST00000359218.10:c.21769C>T (TTN) | ENSP00000352154.5:p.Arg7257Cys | |
| ENST00000342175.10:c.21970C>T (TTN) | ENSP00000340554.6:p.Arg7324Cys | |
| ENST00000342992.10:c.40885C>T (TTN) | ENSP00000343764.6:p.Arg13629Cys | |
| ENST00000359218.9:c.21769C>T (TTN) | ENSP00000352154.5:p.Arg7257Cys | |
| ENST00000460472.6:c.21394C>T (TTN) | ENSP00000434586.1:p.Arg7132Cys | |
| ENST00000589042.5:c.48589C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16197Cys | |
| ENST00000591111.5:c.43666C>T (TTN) | ENSP00000465570.1:p.Arg14556Cys | |
| ENST00000615779.4:c.43666C>T (TTN) | ENSP00000483597.1:p.Arg14556Cys | |
| NM_001256850.1:c.43666C>T (TTN) | NP_001243779.1:p.Arg14556Cys | |
| NM_001267550.2:c.48589C>T (TTN) MANE Select | NP_001254479.2:p.Arg16197Cys | |
| NM_003319.4:c.21394C>T (TTN) | NP_003310.4:p.Arg7132Cys | |
| NM_133378.4:c.40885C>T (TTN) | NP_596869.4:p.Arg13629Cys | |
| NM_133432.3:c.21769C>T (TTN) | NP_597676.3:p.Arg7257Cys | |
| NM_133437.4:c.21970C>T (TTN) | NP_597681.4:p.Arg7324Cys | |
| NR_038271.1:n.1586G>A (TTN-AS1) | ||
| XM_011511729.1:c.47686C>T (TTN) | XP_011510031.1:p.Arg15896Cys | |
| XM_011511730.1:c.21580C>T (TTN) | XP_011510032.1:p.Arg7194Cys | |
| XM_011511731.1:c.21439C>T (TTN) | XP_011510033.1:p.Arg7147Cys | |
| XM_017004819.1:c.47482C>T (TTN) | XP_016860308.1:p.Arg15828Cys | |
| XM_017004820.1:c.42880C>T (TTN) | XP_016860309.1:p.Arg14294Cys | |
| XM_017004821.1:c.42877C>T (TTN) | XP_016860310.1:p.Arg14293Cys | |
| XM_017004822.1:c.39919C>T (TTN) | XP_016860311.1:p.Arg13307Cys | |
| XM_017004823.1:c.21535C>T (TTN) | XP_016860312.1:p.Arg7179Cys | |
| XM_024453094.1:c.43030C>T (TTN) | XP_024308862.1:p.Arg14344Cys | |
| XM_024453095.1:c.43027C>T (TTN) | XP_024308863.1:p.Arg14343Cys | |
| XM_024453096.1:c.42460C>T (TTN) | XP_024308864.1:p.Arg14154Cys | |
| XM_024453097.1:c.39802C>T (TTN) | XP_024308865.1:p.Arg13268Cys | |
| XM_024453098.1:c.39721C>T (TTN) | XP_024308866.1:p.Arg13241Cys | |
| XM_024453099.1:c.21484C>T (TTN) | XP_024308867.1:p.Arg7162Cys | |
| XM_024453100.1:c.11338C>T (TTN) | XP_024308868.1:p.Arg3780Cys |