Linked Data
ClinVar Variation Id:
178194
dbSNP Id:
rs376870149
ExAC:
2:179441006 C / T
gnomAD v2:
2-179441006-C-T
gnomAD v3:
2-178576279-C-T
gnomAD v4:
2-178576279-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576279C>T , CM000664.2:g.178576279C>T | GRCh38 |
| NC_000002.11:g.179441006C>T , CM000664.1:g.179441006C>T | GRCh37 |
| NC_000002.10:g.179149252C>T | NCBI36 |
| NG_011618.3:g.259524G>A , LRG_391:g.259524G>A | |
| NG_051363.1:g.58453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62149G>A (TTN) | ENSP00000343764.6:p.Glu20717Lys | |
| ENST00000342175.11:c.43234G>A (TTN) | ENSP00000340554.6:p.Glu14412Lys | |
| ENST00000359218.10:c.43033G>A (TTN) | ENSP00000352154.5:p.Glu14345Lys | |
| ENST00000342175.10:c.43234G>A (TTN) | ENSP00000340554.6:p.Glu14412Lys | |
| ENST00000342992.10:c.62149G>A (TTN) | ENSP00000343764.6:p.Glu20717Lys | |
| ENST00000359218.9:c.43033G>A (TTN) | ENSP00000352154.5:p.Glu14345Lys | |
| ENST00000460472.6:c.42658G>A (TTN) | ENSP00000434586.1:p.Glu14220Lys | |
| ENST00000589042.5:c.69853G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu23285Lys | |
| ENST00000591111.5:c.64930G>A (TTN) | ENSP00000465570.1:p.Glu21644Lys | |
| ENST00000615779.4:c.64930G>A (TTN) | ENSP00000483597.1:p.Glu21644Lys | |
| NM_001256850.1:c.64930G>A (TTN) | NP_001243779.1:p.Glu21644Lys | |
| NM_001267550.2:c.69853G>A (TTN) MANE Select | NP_001254479.2:p.Glu23285Lys | |
| NM_003319.4:c.42658G>A (TTN) | NP_003310.4:p.Glu14220Lys | |
| NM_133378.4:c.62149G>A (TTN) | NP_596869.4:p.Glu20717Lys | |
| NM_133432.3:c.43033G>A (TTN) | NP_597676.3:p.Glu14345Lys | |
| NM_133437.4:c.43234G>A (TTN) | NP_597681.4:p.Glu14412Lys | |
| NR_038271.1:n.596+4830C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-6293C>T (TTN-AS1) | ||
| XM_011511729.1:c.68950G>A (TTN) | XP_011510031.1:p.Glu22984Lys | |
| XM_011511730.1:c.42844G>A (TTN) | XP_011510032.1:p.Glu14282Lys | |
| XM_011511731.1:c.42703G>A (TTN) | XP_011510033.1:p.Glu14235Lys | |
| XM_017004819.1:c.68746G>A (TTN) | XP_016860308.1:p.Glu22916Lys | |
| XM_017004820.1:c.64144G>A (TTN) | XP_016860309.1:p.Glu21382Lys | |
| XM_017004821.1:c.64141G>A (TTN) | XP_016860310.1:p.Glu21381Lys | |
| XM_017004822.1:c.61183G>A (TTN) | XP_016860311.1:p.Glu20395Lys | |
| XM_017004823.1:c.42799G>A (TTN) | XP_016860312.1:p.Glu14267Lys | |
| XM_024453094.1:c.64294G>A (TTN) | XP_024308862.1:p.Glu21432Lys | |
| XM_024453095.1:c.64291G>A (TTN) | XP_024308863.1:p.Glu21431Lys | |
| XM_024453096.1:c.63724G>A (TTN) | XP_024308864.1:p.Glu21242Lys | |
| XM_024453097.1:c.61066G>A (TTN) | XP_024308865.1:p.Glu20356Lys | |
| XM_024453098.1:c.60985G>A (TTN) | XP_024308866.1:p.Glu20329Lys | |
| XM_024453099.1:c.42748G>A (TTN) | XP_024308867.1:p.Glu14250Lys | |
| XM_024453100.1:c.32602G>A (TTN) | XP_024308868.1:p.Glu10868Lys |