Linked Data
ClinVar Variation Id:
47245
ClinVar RCV Id:
RCV000040515
RCV000464443
RCV001703905
RCV001839672
RCV001839674
RCV001839673
RCV001839675
RCV002371844
dbSNP Id:
rs202125813
ExAC:
2:179445129 T / C
gnomAD v2:
2-179445129-T-C
gnomAD v3:
2-178580402-T-C
gnomAD v4:
2-178580402-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580402T>C , CM000664.2:g.178580402T>C | GRCh38 |
| NC_000002.11:g.179445129T>C , CM000664.1:g.179445129T>C | GRCh37 |
| NC_000002.10:g.179153375T>C | NCBI36 |
| NG_011618.3:g.255401A>G , LRG_391:g.255401A>G | |
| NG_051363.1:g.62576T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59273A>G (TTN) | ENSP00000343764.6:p.Lys19758Arg | |
| ENST00000342175.11:c.40358A>G (TTN) | ENSP00000340554.6:p.Lys13453Arg | |
| ENST00000359218.10:c.40157A>G (TTN) | ENSP00000352154.5:p.Lys13386Arg | |
| ENST00000342175.10:c.40358A>G (TTN) | ENSP00000340554.6:p.Lys13453Arg | |
| ENST00000342992.10:c.59273A>G (TTN) | ENSP00000343764.6:p.Lys19758Arg | |
| ENST00000359218.9:c.40157A>G (TTN) | ENSP00000352154.5:p.Lys13386Arg | |
| ENST00000460472.6:c.39782A>G (TTN) | ENSP00000434586.1:p.Lys13261Arg | |
| ENST00000589042.5:c.66977A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys22326Arg | |
| ENST00000591111.5:c.62054A>G (TTN) | ENSP00000465570.1:p.Lys20685Arg | |
| ENST00000615779.4:c.62054A>G (TTN) | ENSP00000483597.1:p.Lys20685Arg | |
| NM_001256850.1:c.62054A>G (TTN) | NP_001243779.1:p.Lys20685Arg | |
| NM_001267550.2:c.66977A>G (TTN) MANE Select | NP_001254479.2:p.Lys22326Arg | |
| NM_003319.4:c.39782A>G (TTN) | NP_003310.4:p.Lys13261Arg | |
| NM_133378.4:c.59273A>G (TTN) | NP_596869.4:p.Lys19758Arg | |
| NM_133432.3:c.40157A>G (TTN) | NP_597676.3:p.Lys13386Arg | |
| NM_133437.4:c.40358A>G (TTN) | NP_597681.4:p.Lys13453Arg | |
| NR_038271.1:n.596+8953T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-2170T>C (TTN-AS1) | ||
| XM_011511729.1:c.66074A>G (TTN) | XP_011510031.1:p.Lys22025Arg | |
| XM_011511730.1:c.39968A>G (TTN) | XP_011510032.1:p.Lys13323Arg | |
| XM_011511731.1:c.39827A>G (TTN) | XP_011510033.1:p.Lys13276Arg | |
| XM_017004819.1:c.65870A>G (TTN) | XP_016860308.1:p.Lys21957Arg | |
| XM_017004820.1:c.61268A>G (TTN) | XP_016860309.1:p.Lys20423Arg | |
| XM_017004821.1:c.61265A>G (TTN) | XP_016860310.1:p.Lys20422Arg | |
| XM_017004822.1:c.58307A>G (TTN) | XP_016860311.1:p.Lys19436Arg | |
| XM_017004823.1:c.39923A>G (TTN) | XP_016860312.1:p.Lys13308Arg | |
| XM_024453094.1:c.61418A>G (TTN) | XP_024308862.1:p.Lys20473Arg | |
| XM_024453095.1:c.61415A>G (TTN) | XP_024308863.1:p.Lys20472Arg | |
| XM_024453096.1:c.60848A>G (TTN) | XP_024308864.1:p.Lys20283Arg | |
| XM_024453097.1:c.58190A>G (TTN) | XP_024308865.1:p.Lys19397Arg | |
| XM_024453098.1:c.58109A>G (TTN) | XP_024308866.1:p.Lys19370Arg | |
| XM_024453099.1:c.39872A>G (TTN) | XP_024308867.1:p.Lys13291Arg | |
| XM_024453100.1:c.29726A>G (TTN) | XP_024308868.1:p.Lys9909Arg |