Linked Data
ClinVar Variation Id:
47440
ClinVar RCV Id:
RCV000040709
RCV000274794
RCV000332698
RCV000318173
RCV000387249
RCV000375092
RCV000726293
RCV001087454
RCV002345326
dbSNP Id:
rs397517730
ExAC:
2:179426163 T / G
gnomAD v2:
2-179426163-T-G
gnomAD v3:
2-178561436-T-G
gnomAD v4:
2-178561436-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561436T>G , CM000664.2:g.178561436T>G | GRCh38 |
| NC_000002.11:g.179426163T>G , CM000664.1:g.179426163T>G | GRCh37 |
| NC_000002.10:g.179134409T>G | NCBI36 |
| NG_011618.3:g.274367A>C , LRG_391:g.274367A>C | |
| NG_051363.1:g.43610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76992A>C (TTN) | ENSP00000343764.6:p.Glu25664Asp | |
| ENST00000342175.11:c.58077A>C (TTN) | ENSP00000340554.6:p.Glu19359Asp | |
| ENST00000359218.10:c.57876A>C (TTN) | ENSP00000352154.5:p.Glu19292Asp | |
| ENST00000342175.10:c.58077A>C (TTN) | ENSP00000340554.6:p.Glu19359Asp | |
| ENST00000342992.10:c.76992A>C (TTN) | ENSP00000343764.6:p.Glu25664Asp | |
| ENST00000359218.9:c.57876A>C (TTN) | ENSP00000352154.5:p.Glu19292Asp | |
| ENST00000460472.6:c.57501A>C (TTN) | ENSP00000434586.1:p.Glu19167Asp | |
| ENST00000589042.5:c.84696A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu28232Asp | |
| ENST00000591111.5:c.79773A>C (TTN) | ENSP00000465570.1:p.Glu26591Asp | |
| ENST00000615779.4:c.79773A>C (TTN) | ENSP00000483597.1:p.Glu26591Asp | |
| NM_001256850.1:c.79773A>C (TTN) | NP_001243779.1:p.Glu26591Asp | |
| NM_001267550.2:c.84696A>C (TTN) MANE Select | NP_001254479.2:p.Glu28232Asp | |
| NM_003319.4:c.57501A>C (TTN) | NP_003310.4:p.Glu19167Asp | |
| NM_133378.4:c.76992A>C (TTN) | NP_596869.4:p.Glu25664Asp | |
| NM_133432.3:c.57876A>C (TTN) | NP_597676.3:p.Glu19292Asp | |
| NM_133437.4:c.58077A>C (TTN) | NP_597681.4:p.Glu19359Asp | |
| NR_038271.1:n.447-9864T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+19075T>G (TTN-AS1) | ||
| XM_011511729.1:c.83793A>C (TTN) | XP_011510031.1:p.Glu27931Asp | |
| XM_011511730.1:c.57687A>C (TTN) | XP_011510032.1:p.Glu19229Asp | |
| XM_011511731.1:c.57546A>C (TTN) | XP_011510033.1:p.Glu19182Asp | |
| XM_017004819.1:c.83589A>C (TTN) | XP_016860308.1:p.Glu27863Asp | |
| XM_017004820.1:c.78987A>C (TTN) | XP_016860309.1:p.Glu26329Asp | |
| XM_017004821.1:c.78984A>C (TTN) | XP_016860310.1:p.Glu26328Asp | |
| XM_017004822.1:c.76026A>C (TTN) | XP_016860311.1:p.Glu25342Asp | |
| XM_017004823.1:c.57642A>C (TTN) | XP_016860312.1:p.Glu19214Asp | |
| XM_024453094.1:c.79137A>C (TTN) | XP_024308862.1:p.Glu26379Asp | |
| XM_024453095.1:c.79134A>C (TTN) | XP_024308863.1:p.Glu26378Asp | |
| XM_024453096.1:c.78567A>C (TTN) | XP_024308864.1:p.Glu26189Asp | |
| XM_024453097.1:c.75909A>C (TTN) | XP_024308865.1:p.Glu25303Asp | |
| XM_024453098.1:c.75828A>C (TTN) | XP_024308866.1:p.Glu25276Asp | |
| XM_024453099.1:c.57591A>C (TTN) | XP_024308867.1:p.Glu19197Asp | |
| XM_024453100.1:c.47445A>C (TTN) | XP_024308868.1:p.Glu15815Asp |