Linked Data
ClinVar Variation Id:
202793
ClinVar RCV Id:
RCV000184726
RCV000262099
RCV000260739
RCV000302097
RCV000319553
RCV000358672
RCV000462751
RCV003137729
dbSNP Id:
rs368450785
ExAC:
2:179449134 C / A
gnomAD v2:
2-179449134-C-A
gnomAD v3:
2-178584407-C-A
gnomAD v4:
2-178584407-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584407C>A , CM000664.2:g.178584407C>A | GRCh38 |
| NC_000002.11:g.179449134C>A , CM000664.1:g.179449134C>A | GRCh37 |
| NC_000002.10:g.179157380C>A | NCBI36 |
| NG_011618.3:g.251396G>T , LRG_391:g.251396G>T | |
| NG_051363.1:g.66581C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57440G>T (TTN) | ENSP00000343764.6:p.Arg19147Leu | |
| ENST00000342175.11:c.38525G>T (TTN) | ENSP00000340554.6:p.Arg12842Leu | |
| ENST00000359218.10:c.38324G>T (TTN) | ENSP00000352154.5:p.Arg12775Leu | |
| ENST00000342175.10:c.38525G>T (TTN) | ENSP00000340554.6:p.Arg12842Leu | |
| ENST00000342992.10:c.57440G>T (TTN) | ENSP00000343764.6:p.Arg19147Leu | |
| ENST00000359218.9:c.38324G>T (TTN) | ENSP00000352154.5:p.Arg12775Leu | |
| ENST00000460472.6:c.37949G>T (TTN) | ENSP00000434586.1:p.Arg12650Leu | |
| ENST00000589042.5:c.65144G>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21715Leu | |
| ENST00000591111.5:c.60221G>T (TTN) | ENSP00000465570.1:p.Arg20074Leu | |
| ENST00000615779.4:c.60221G>T (TTN) | ENSP00000483597.1:p.Arg20074Leu | |
| NM_001256850.1:c.60221G>T (TTN) | NP_001243779.1:p.Arg20074Leu | |
| NM_001267550.2:c.65144G>T (TTN) MANE Select | NP_001254479.2:p.Arg21715Leu | |
| NM_003319.4:c.37949G>T (TTN) | NP_003310.4:p.Arg12650Leu | |
| NM_133378.4:c.57440G>T (TTN) | NP_596869.4:p.Arg19147Leu | |
| NM_133432.3:c.38324G>T (TTN) | NP_597676.3:p.Arg12775Leu | |
| NM_133437.4:c.38525G>T (TTN) | NP_597681.4:p.Arg12842Leu | |
| NR_038271.1:n.596+12958C>A (TTN-AS1) | ||
| NR_038272.1:n.2768-166C>A (TTN-AS1) | ||
| XM_011511729.1:c.64241G>T (TTN) | XP_011510031.1:p.Arg21414Leu | |
| XM_011511730.1:c.38135G>T (TTN) | XP_011510032.1:p.Arg12712Leu | |
| XM_011511731.1:c.37994G>T (TTN) | XP_011510033.1:p.Arg12665Leu | |
| XM_017004819.1:c.64037G>T (TTN) | XP_016860308.1:p.Arg21346Leu | |
| XM_017004820.1:c.59435G>T (TTN) | XP_016860309.1:p.Arg19812Leu | |
| XM_017004821.1:c.59432G>T (TTN) | XP_016860310.1:p.Arg19811Leu | |
| XM_017004822.1:c.56474G>T (TTN) | XP_016860311.1:p.Arg18825Leu | |
| XM_017004823.1:c.38090G>T (TTN) | XP_016860312.1:p.Arg12697Leu | |
| XM_024453094.1:c.59585G>T (TTN) | XP_024308862.1:p.Arg19862Leu | |
| XM_024453095.1:c.59582G>T (TTN) | XP_024308863.1:p.Arg19861Leu | |
| XM_024453096.1:c.59015G>T (TTN) | XP_024308864.1:p.Arg19672Leu | |
| XM_024453097.1:c.56357G>T (TTN) | XP_024308865.1:p.Arg18786Leu | |
| XM_024453098.1:c.56276G>T (TTN) | XP_024308866.1:p.Arg18759Leu | |
| XM_024453099.1:c.38039G>T (TTN) | XP_024308867.1:p.Arg12680Leu | |
| XM_024453100.1:c.27893G>T (TTN) | XP_024308868.1:p.Arg9298Leu |