Linked Data
ClinVar Variation Id:
130670
ClinVar RCV Id:
RCV000118764
RCV000253770
RCV000532684
RCV001133286
RCV001133285
RCV001133287
RCV001133288
RCV001133289
dbSNP Id:
rs373305248
ExAC:
2:179473599 T / A
gnomAD v2:
2-179473599-T-A
gnomAD v3:
2-178608872-T-A
gnomAD v4:
2-178608872-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608872T>A , CM000664.2:g.178608872T>A | GRCh38 |
| NC_000002.11:g.179473599T>A , CM000664.1:g.179473599T>A | GRCh37 |
| NC_000002.10:g.179181844T>A | NCBI36 |
| NG_011618.3:g.226931A>T , LRG_391:g.226931A>T | |
| NG_051363.1:g.91046T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44435A>T (TTN) | ENSP00000343764.6:p.Asp14812Val | |
| ENST00000342175.11:c.25520A>T (TTN) | ENSP00000340554.6:p.Asp8507Val | |
| ENST00000359218.10:c.25319A>T (TTN) | ENSP00000352154.5:p.Asp8440Val | |
| ENST00000342175.10:c.25520A>T (TTN) | ENSP00000340554.6:p.Asp8507Val | |
| ENST00000342992.10:c.44435A>T (TTN) | ENSP00000343764.6:p.Asp14812Val | |
| ENST00000359218.9:c.25319A>T (TTN) | ENSP00000352154.5:p.Asp8440Val | |
| ENST00000460472.6:c.24944A>T (TTN) | ENSP00000434586.1:p.Asp8315Val | |
| ENST00000589042.5:c.52139A>T (TTN) MANE Select | ENSP00000467141.1:p.Asp17380Val | |
| ENST00000591111.5:c.47216A>T (TTN) | ENSP00000465570.1:p.Asp15739Val | |
| ENST00000615779.4:c.47216A>T (TTN) | ENSP00000483597.1:p.Asp15739Val | |
| NM_001256850.1:c.47216A>T (TTN) | NP_001243779.1:p.Asp15739Val | |
| NM_001267550.2:c.52139A>T (TTN) MANE Select | NP_001254479.2:p.Asp17380Val | |
| NM_003319.4:c.24944A>T (TTN) | NP_003310.4:p.Asp8315Val | |
| NM_133378.4:c.44435A>T (TTN) | NP_596869.4:p.Asp14812Val | |
| NM_133432.3:c.25319A>T (TTN) | NP_597676.3:p.Asp8440Val | |
| NM_133437.4:c.25520A>T (TTN) | NP_597681.4:p.Asp8507Val | |
| NR_038271.1:n.782+606T>A (TTN-AS1) | ||
| XM_011511729.1:c.51236A>T (TTN) | XP_011510031.1:p.Asp17079Val | |
| XM_011511730.1:c.25130A>T (TTN) | XP_011510032.1:p.Asp8377Val | |
| XM_011511731.1:c.24989A>T (TTN) | XP_011510033.1:p.Asp8330Val | |
| XM_017004819.1:c.51032A>T (TTN) | XP_016860308.1:p.Asp17011Val | |
| XM_017004820.1:c.46430A>T (TTN) | XP_016860309.1:p.Asp15477Val | |
| XM_017004821.1:c.46427A>T (TTN) | XP_016860310.1:p.Asp15476Val | |
| XM_017004822.1:c.43469A>T (TTN) | XP_016860311.1:p.Asp14490Val | |
| XM_017004823.1:c.25085A>T (TTN) | XP_016860312.1:p.Asp8362Val | |
| XM_024453094.1:c.46580A>T (TTN) | XP_024308862.1:p.Asp15527Val | |
| XM_024453095.1:c.46577A>T (TTN) | XP_024308863.1:p.Asp15526Val | |
| XM_024453096.1:c.46010A>T (TTN) | XP_024308864.1:p.Asp15337Val | |
| XM_024453097.1:c.43352A>T (TTN) | XP_024308865.1:p.Asp14451Val | |
| XM_024453098.1:c.43271A>T (TTN) | XP_024308866.1:p.Asp14424Val | |
| XM_024453099.1:c.25034A>T (TTN) | XP_024308867.1:p.Asp8345Val | |
| XM_024453100.1:c.14888A>T (TTN) | XP_024308868.1:p.Asp4963Val |