Linked Data
ClinVar Variation Id:
332785
ClinVar RCV Id:
RCV000290915
RCV000315489
RCV000345857
RCV000369773
RCV000406615
RCV002338924
RCV002057620
dbSNP Id:
rs756809007
ExAC:
2:179437296 G / C
gnomAD v4:
2-178572569-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572569G>C , CM000664.2:g.178572569G>C | GRCh38 |
| NC_000002.11:g.179437296G>C , CM000664.1:g.179437296G>C | GRCh37 |
| NC_000002.10:g.179145542G>C | NCBI36 |
| NG_011618.3:g.263234C>G , LRG_391:g.263234C>G | |
| NG_051363.1:g.54743G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65859C>G (TTN) | ENSP00000343764.6:p.Gly21953= | |
| ENST00000342175.11:c.46944C>G (TTN) | ENSP00000340554.6:p.Gly15648= | |
| ENST00000359218.10:c.46743C>G (TTN) | ENSP00000352154.5:p.Gly15581= | |
| ENST00000342175.10:c.46944C>G (TTN) | ENSP00000340554.6:p.Gly15648= | |
| ENST00000342992.10:c.65859C>G (TTN) | ENSP00000343764.6:p.Gly21953= | |
| ENST00000359218.9:c.46743C>G (TTN) | ENSP00000352154.5:p.Gly15581= | |
| ENST00000460472.6:c.46368C>G (TTN) | ENSP00000434586.1:p.Gly15456= | |
| ENST00000589042.5:c.73563C>G (TTN) MANE Select | ENSP00000467141.1:p.Gly24521= | |
| ENST00000591111.5:c.68640C>G (TTN) | ENSP00000465570.1:p.Gly22880= | |
| ENST00000615779.4:c.68640C>G (TTN) | ENSP00000483597.1:p.Gly22880= | |
| NM_001256850.1:c.68640C>G (TTN) | NP_001243779.1:p.Gly22880= | |
| NM_001267550.2:c.73563C>G (TTN) MANE Select | NP_001254479.2:p.Gly24521= | |
| NM_003319.4:c.46368C>G (TTN) | NP_003310.4:p.Gly15456= | |
| NM_133378.4:c.65859C>G (TTN) | NP_596869.4:p.Gly21953= | |
| NM_133432.3:c.46743C>G (TTN) | NP_597676.3:p.Gly15581= | |
| NM_133437.4:c.46944C>G (TTN) | NP_597681.4:p.Gly15648= | |
| NR_038271.1:n.596+1120G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10003G>C (TTN-AS1) | ||
| XM_011511729.1:c.72660C>G (TTN) | XP_011510031.1:p.Gly24220= | |
| XM_011511730.1:c.46554C>G (TTN) | XP_011510032.1:p.Gly15518= | |
| XM_011511731.1:c.46413C>G (TTN) | XP_011510033.1:p.Gly15471= | |
| XM_017004819.1:c.72456C>G (TTN) | XP_016860308.1:p.Gly24152= | |
| XM_017004820.1:c.67854C>G (TTN) | XP_016860309.1:p.Gly22618= | |
| XM_017004821.1:c.67851C>G (TTN) | XP_016860310.1:p.Gly22617= | |
| XM_017004822.1:c.64893C>G (TTN) | XP_016860311.1:p.Gly21631= | |
| XM_017004823.1:c.46509C>G (TTN) | XP_016860312.1:p.Gly15503= | |
| XM_024453094.1:c.68004C>G (TTN) | XP_024308862.1:p.Gly22668= | |
| XM_024453095.1:c.68001C>G (TTN) | XP_024308863.1:p.Gly22667= | |
| XM_024453096.1:c.67434C>G (TTN) | XP_024308864.1:p.Gly22478= | |
| XM_024453097.1:c.64776C>G (TTN) | XP_024308865.1:p.Gly21592= | |
| XM_024453098.1:c.64695C>G (TTN) | XP_024308866.1:p.Gly21565= | |
| XM_024453099.1:c.46458C>G (TTN) | XP_024308867.1:p.Gly15486= | |
| XM_024453100.1:c.36312C>G (TTN) | XP_024308868.1:p.Gly12104= |