Linked Data
ClinVar Variation Id:
332804
ClinVar RCV Id:
RCV000274078
RCV000277177
RCV000329281
RCV000332269
RCV000368757
RCV000952649
RCV001572142
RCV002356453
dbSNP Id:
rs369255906
ExAC:
2:179448410 T / C
gnomAD v2:
2-179448410-T-C
gnomAD v3:
2-178583683-T-C
gnomAD v4:
2-178583683-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583683T>C , CM000664.2:g.178583683T>C | GRCh38 |
| NC_000002.11:g.179448410T>C , CM000664.1:g.179448410T>C | GRCh37 |
| NC_000002.10:g.179156656T>C | NCBI36 |
| NG_011618.3:g.252120A>G , LRG_391:g.252120A>G | |
| NG_051363.1:g.65857T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57795A>G (TTN) | ENSP00000343764.6:p.Arg19265= | |
| ENST00000342175.11:c.38880A>G (TTN) | ENSP00000340554.6:p.Arg12960= | |
| ENST00000359218.10:c.38679A>G (TTN) | ENSP00000352154.5:p.Arg12893= | |
| ENST00000342175.10:c.38880A>G (TTN) | ENSP00000340554.6:p.Arg12960= | |
| ENST00000342992.10:c.57795A>G (TTN) | ENSP00000343764.6:p.Arg19265= | |
| ENST00000359218.9:c.38679A>G (TTN) | ENSP00000352154.5:p.Arg12893= | |
| ENST00000460472.6:c.38304A>G (TTN) | ENSP00000434586.1:p.Arg12768= | |
| ENST00000589042.5:c.65499A>G (TTN) MANE Select | ENSP00000467141.1:p.Arg21833= | |
| ENST00000591111.5:c.60576A>G (TTN) | ENSP00000465570.1:p.Arg20192= | |
| ENST00000615779.4:c.60576A>G (TTN) | ENSP00000483597.1:p.Arg20192= | |
| NM_001256850.1:c.60576A>G (TTN) | NP_001243779.1:p.Arg20192= | |
| NM_001267550.2:c.65499A>G (TTN) MANE Select | NP_001254479.2:p.Arg21833= | |
| NM_003319.4:c.38304A>G (TTN) | NP_003310.4:p.Arg12768= | |
| NM_133378.4:c.57795A>G (TTN) | NP_596869.4:p.Arg19265= | |
| NM_133432.3:c.38679A>G (TTN) | NP_597676.3:p.Arg12893= | |
| NM_133437.4:c.38880A>G (TTN) | NP_597681.4:p.Arg12960= | |
| NR_038271.1:n.596+12234T>C (TTN-AS1) | ||
| NR_038272.1:n.2529T>C (TTN-AS1) | ||
| XM_011511729.1:c.64596A>G (TTN) | XP_011510031.1:p.Arg21532= | |
| XM_011511730.1:c.38490A>G (TTN) | XP_011510032.1:p.Arg12830= | |
| XM_011511731.1:c.38349A>G (TTN) | XP_011510033.1:p.Arg12783= | |
| XM_017004819.1:c.64392A>G (TTN) | XP_016860308.1:p.Arg21464= | |
| XM_017004820.1:c.59790A>G (TTN) | XP_016860309.1:p.Arg19930= | |
| XM_017004821.1:c.59787A>G (TTN) | XP_016860310.1:p.Arg19929= | |
| XM_017004822.1:c.56829A>G (TTN) | XP_016860311.1:p.Arg18943= | |
| XM_017004823.1:c.38445A>G (TTN) | XP_016860312.1:p.Arg12815= | |
| XM_024453094.1:c.59940A>G (TTN) | XP_024308862.1:p.Arg19980= | |
| XM_024453095.1:c.59937A>G (TTN) | XP_024308863.1:p.Arg19979= | |
| XM_024453096.1:c.59370A>G (TTN) | XP_024308864.1:p.Arg19790= | |
| XM_024453097.1:c.56712A>G (TTN) | XP_024308865.1:p.Arg18904= | |
| XM_024453098.1:c.56631A>G (TTN) | XP_024308866.1:p.Arg18877= | |
| XM_024453099.1:c.38394A>G (TTN) | XP_024308867.1:p.Arg12798= | |
| XM_024453100.1:c.28248A>G (TTN) | XP_024308868.1:p.Arg9416= |