Linked Data
ClinVar Variation Id:
47674
ClinVar RCV Id:
RCV000040943
RCV000118804
RCV000250530
RCV000768826
RCV001135062
RCV001135064
RCV001080684
RCV001135063
RCV001135065
RCV001135061
RCV004528225
dbSNP Id:
rs55866005
ExAC:
2:179396782 C / G
gnomAD v2:
2-179396782-C-G
gnomAD v3:
2-178532055-C-G
gnomAD v4:
2-178532055-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532055C>G , CM000664.2:g.178532055C>G | GRCh38 |
| NC_000002.11:g.179396782C>G , CM000664.1:g.179396782C>G | GRCh37 |
| NC_000002.10:g.179105028C>G | NCBI36 |
| NG_011618.3:g.303748G>C , LRG_391:g.303748G>C | |
| NG_051363.1:g.14229C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96856G>C (TTN) | ENSP00000343764.6:p.Val32286Leu | |
| ENST00000342175.11:c.77941G>C (TTN) | ENSP00000340554.6:p.Val25981Leu | |
| ENST00000359218.10:c.77740G>C (TTN) | ENSP00000352154.5:p.Val25914Leu | |
| ENST00000342175.10:c.77941G>C (TTN) | ENSP00000340554.6:p.Val25981Leu | |
| ENST00000342992.10:c.96856G>C (TTN) | ENSP00000343764.6:p.Val32286Leu | |
| ENST00000359218.9:c.77740G>C (TTN) | ENSP00000352154.5:p.Val25914Leu | |
| ENST00000460472.6:c.77365G>C (TTN) | ENSP00000434586.1:p.Val25789Leu | |
| ENST00000589042.5:c.104560G>C (TTN) MANE Select | ENSP00000467141.1:p.Val34854Leu | |
| ENST00000591111.5:c.99637G>C (TTN) | ENSP00000465570.1:p.Val33213Leu | |
| ENST00000615779.4:c.99637G>C (TTN) | ENSP00000483597.1:p.Val33213Leu | |
| NM_001256850.1:c.99637G>C (TTN) | NP_001243779.1:p.Val33213Leu | |
| NM_001267550.2:c.104560G>C (TTN) MANE Select | NP_001254479.2:p.Val34854Leu | |
| NM_003319.4:c.77365G>C (TTN) | NP_003310.4:p.Val25789Leu | |
| NM_133378.4:c.96856G>C (TTN) | NP_596869.4:p.Val32286Leu | |
| NM_133432.3:c.77740G>C (TTN) | NP_597676.3:p.Val25914Leu | |
| NM_133437.4:c.77941G>C (TTN) | NP_597681.4:p.Val25981Leu | |
| NR_038271.1:n.446+8419C>G (TTN-AS1) | ||
| NR_038272.1:n.220-3677C>G (TTN-AS1) | ||
| XM_011511729.1:c.103657G>C (TTN) | XP_011510031.1:p.Val34553Leu | |
| XM_011511730.1:c.77551G>C (TTN) | XP_011510032.1:p.Val25851Leu | |
| XM_011511731.1:c.77410G>C (TTN) | XP_011510033.1:p.Val25804Leu | |
| XM_017004819.1:c.103453G>C (TTN) | XP_016860308.1:p.Val34485Leu | |
| XM_017004820.1:c.98851G>C (TTN) | XP_016860309.1:p.Val32951Leu | |
| XM_017004821.1:c.98848G>C (TTN) | XP_016860310.1:p.Val32950Leu | |
| XM_017004822.1:c.95890G>C (TTN) | XP_016860311.1:p.Val31964Leu | |
| XM_017004823.1:c.77506G>C (TTN) | XP_016860312.1:p.Val25836Leu | |
| XM_024453094.1:c.99001G>C (TTN) | XP_024308862.1:p.Val33001Leu | |
| XM_024453095.1:c.98998G>C (TTN) | XP_024308863.1:p.Val33000Leu | |
| XM_024453096.1:c.98431G>C (TTN) | XP_024308864.1:p.Val32811Leu | |
| XM_024453097.1:c.95773G>C (TTN) | XP_024308865.1:p.Val31925Leu | |
| XM_024453098.1:c.95692G>C (TTN) | XP_024308866.1:p.Val31898Leu | |
| XM_024453099.1:c.77455G>C (TTN) | XP_024308867.1:p.Val25819Leu | |
| XM_024453100.1:c.67309G>C (TTN) | XP_024308868.1:p.Val22437Leu |