Linked Data
ClinVar Variation Id:
466660
ClinVar RCV Id:
RCV001377020
dbSNP Id:
rs373533040
ExAC:
2:179428916 C / A
gnomAD v2:
2-179428916-C-A
gnomAD v4:
2-178564189-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564189C>A , CM000664.2:g.178564189C>A | GRCh38 |
| NC_000002.11:g.179428916C>A , CM000664.1:g.179428916C>A | GRCh37 |
| NC_000002.10:g.179137162C>A | NCBI36 |
| NG_011618.3:g.271614G>T , LRG_391:g.271614G>T | |
| NG_051363.1:g.46363C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74239G>T (TTN) | ENSP00000343764.6:p.Glu24747Ter | |
| ENST00000342175.11:c.55324G>T (TTN) | ENSP00000340554.6:p.Glu18442Ter | |
| ENST00000359218.10:c.55123G>T (TTN) | ENSP00000352154.5:p.Glu18375Ter | |
| ENST00000342175.10:c.55324G>T (TTN) | ENSP00000340554.6:p.Glu18442Ter | |
| ENST00000342992.10:c.74239G>T (TTN) | ENSP00000343764.6:p.Glu24747Ter | |
| ENST00000359218.9:c.55123G>T (TTN) | ENSP00000352154.5:p.Glu18375Ter | |
| ENST00000460472.6:c.54748G>T (TTN) | ENSP00000434586.1:p.Glu18250Ter | |
| ENST00000589042.5:c.81943G>T (TTN) MANE Select | ENSP00000467141.1:p.Glu27315Ter | |
| ENST00000591111.5:c.77020G>T (TTN) | ENSP00000465570.1:p.Glu25674Ter | |
| ENST00000615779.4:c.77020G>T (TTN) | ENSP00000483597.1:p.Glu25674Ter | |
| NM_001256850.1:c.77020G>T (TTN) | NP_001243779.1:p.Glu25674Ter | |
| NM_001267550.2:c.81943G>T (TTN) MANE Select | NP_001254479.2:p.Glu27315Ter | |
| NM_003319.4:c.54748G>T (TTN) | NP_003310.4:p.Glu18250Ter | |
| NM_133378.4:c.74239G>T (TTN) | NP_596869.4:p.Glu24747Ter | |
| NM_133432.3:c.55123G>T (TTN) | NP_597676.3:p.Glu18375Ter | |
| NM_133437.4:c.55324G>T (TTN) | NP_597681.4:p.Glu18442Ter | |
| NR_038271.1:n.447-7111C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-18383C>A (TTN-AS1) | ||
| XM_011511729.1:c.81040G>T (TTN) | XP_011510031.1:p.Glu27014Ter | |
| XM_011511730.1:c.54934G>T (TTN) | XP_011510032.1:p.Glu18312Ter | |
| XM_011511731.1:c.54793G>T (TTN) | XP_011510033.1:p.Glu18265Ter | |
| XM_017004819.1:c.80836G>T (TTN) | XP_016860308.1:p.Glu26946Ter | |
| XM_017004820.1:c.76234G>T (TTN) | XP_016860309.1:p.Glu25412Ter | |
| XM_017004821.1:c.76231G>T (TTN) | XP_016860310.1:p.Glu25411Ter | |
| XM_017004822.1:c.73273G>T (TTN) | XP_016860311.1:p.Glu24425Ter | |
| XM_017004823.1:c.54889G>T (TTN) | XP_016860312.1:p.Glu18297Ter | |
| XM_024453094.1:c.76384G>T (TTN) | XP_024308862.1:p.Glu25462Ter | |
| XM_024453095.1:c.76381G>T (TTN) | XP_024308863.1:p.Glu25461Ter | |
| XM_024453096.1:c.75814G>T (TTN) | XP_024308864.1:p.Glu25272Ter | |
| XM_024453097.1:c.73156G>T (TTN) | XP_024308865.1:p.Glu24386Ter | |
| XM_024453098.1:c.73075G>T (TTN) | XP_024308866.1:p.Glu24359Ter | |
| XM_024453099.1:c.54838G>T (TTN) | XP_024308867.1:p.Glu18280Ter | |
| XM_024453100.1:c.44692G>T (TTN) | XP_024308868.1:p.Glu14898Ter |