Linked Data
ClinVar Variation Id:
535383
ClinVar RCV Id:
RCV000643330
dbSNP Id:
rs1553703542
gnomAD v3:
2-178614635-T-A
gnomAD v4:
2-178614635-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614635T>A , CM000664.2:g.178614635T>A | GRCh38 |
| NC_000002.11:g.179479362T>A , CM000664.1:g.179479362T>A | GRCh37 |
| NC_000002.10:g.179187607T>A | NCBI36 |
| NG_011618.3:g.221168A>T , LRG_391:g.221168A>T | |
| NG_051363.1:g.96809T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41175A>T (TTN) | ENSP00000343764.6:p.Thr13725= | |
| ENST00000342175.11:c.22260A>T (TTN) | ENSP00000340554.6:p.Thr7420= | |
| ENST00000359218.10:c.22059A>T (TTN) | ENSP00000352154.5:p.Thr7353= | |
| ENST00000342175.10:c.22260A>T (TTN) | ENSP00000340554.6:p.Thr7420= | |
| ENST00000342992.10:c.41175A>T (TTN) | ENSP00000343764.6:p.Thr13725= | |
| ENST00000359218.9:c.22059A>T (TTN) | ENSP00000352154.5:p.Thr7353= | |
| ENST00000460472.6:c.21684A>T (TTN) | ENSP00000434586.1:p.Thr7228= | |
| ENST00000589042.5:c.48879A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16293= | |
| ENST00000591111.5:c.43956A>T (TTN) | ENSP00000465570.1:p.Thr14652= | |
| ENST00000615779.4:c.43956A>T (TTN) | ENSP00000483597.1:p.Thr14652= | |
| NM_001256850.1:c.43956A>T (TTN) | NP_001243779.1:p.Thr14652= | |
| NM_001267550.2:c.48879A>T (TTN) MANE Select | NP_001254479.2:p.Thr16293= | |
| NM_003319.4:c.21684A>T (TTN) | NP_003310.4:p.Thr7228= | |
| NM_133378.4:c.41175A>T (TTN) | NP_596869.4:p.Thr13725= | |
| NM_133432.3:c.22059A>T (TTN) | NP_597676.3:p.Thr7353= | |
| NM_133437.4:c.22260A>T (TTN) | NP_597681.4:p.Thr7420= | |
| NR_038271.1:n.1383T>A (TTN-AS1) | ||
| XM_011511729.1:c.47976A>T (TTN) | XP_011510031.1:p.Thr15992= | |
| XM_011511730.1:c.21870A>T (TTN) | XP_011510032.1:p.Thr7290= | |
| XM_011511731.1:c.21729A>T (TTN) | XP_011510033.1:p.Thr7243= | |
| XM_017004819.1:c.47772A>T (TTN) | XP_016860308.1:p.Thr15924= | |
| XM_017004820.1:c.43170A>T (TTN) | XP_016860309.1:p.Thr14390= | |
| XM_017004821.1:c.43167A>T (TTN) | XP_016860310.1:p.Thr14389= | |
| XM_017004822.1:c.40209A>T (TTN) | XP_016860311.1:p.Thr13403= | |
| XM_017004823.1:c.21825A>T (TTN) | XP_016860312.1:p.Thr7275= | |
| XM_024453094.1:c.43320A>T (TTN) | XP_024308862.1:p.Thr14440= | |
| XM_024453095.1:c.43317A>T (TTN) | XP_024308863.1:p.Thr14439= | |
| XM_024453096.1:c.42750A>T (TTN) | XP_024308864.1:p.Thr14250= | |
| XM_024453097.1:c.40092A>T (TTN) | XP_024308865.1:p.Thr13364= | |
| XM_024453098.1:c.40011A>T (TTN) | XP_024308866.1:p.Thr13337= | |
| XM_024453099.1:c.21774A>T (TTN) | XP_024308867.1:p.Thr7258= | |
| XM_024453100.1:c.11628A>T (TTN) | XP_024308868.1:p.Thr3876= |