Linked Data
ClinVar Variation Id:
332790
ClinVar RCV Id:
RCV001495697
dbSNP Id:
rs780920316
ExAC:
2:179439066 T / C
gnomAD v2:
2-179439066-T-C
gnomAD v3:
2-178574339-T-C
gnomAD v4:
2-178574339-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574339T>C , CM000664.2:g.178574339T>C | GRCh38 |
| NC_000002.11:g.179439066T>C , CM000664.1:g.179439066T>C | GRCh37 |
| NC_000002.10:g.179147312T>C | NCBI36 |
| NG_011618.3:g.261464A>G , LRG_391:g.261464A>G | |
| NG_051363.1:g.56513T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.64089A>G (TTN) | ENSP00000343764.6:p.Pro21363= | |
| ENST00000342175.11:c.45174A>G (TTN) | ENSP00000340554.6:p.Pro15058= | |
| ENST00000359218.10:c.44973A>G (TTN) | ENSP00000352154.5:p.Pro14991= | |
| ENST00000342175.10:c.45174A>G (TTN) | ENSP00000340554.6:p.Pro15058= | |
| ENST00000342992.10:c.64089A>G (TTN) | ENSP00000343764.6:p.Pro21363= | |
| ENST00000359218.9:c.44973A>G (TTN) | ENSP00000352154.5:p.Pro14991= | |
| ENST00000460472.6:c.44598A>G (TTN) | ENSP00000434586.1:p.Pro14866= | |
| ENST00000589042.5:c.71793A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro23931= | |
| ENST00000591111.5:c.66870A>G (TTN) | ENSP00000465570.1:p.Pro22290= | |
| ENST00000615779.4:c.66870A>G (TTN) | ENSP00000483597.1:p.Pro22290= | |
| NM_001256850.1:c.66870A>G (TTN) | NP_001243779.1:p.Pro22290= | |
| NM_001267550.2:c.71793A>G (TTN) MANE Select | NP_001254479.2:p.Pro23931= | |
| NM_003319.4:c.44598A>G (TTN) | NP_003310.4:p.Pro14866= | |
| NM_133378.4:c.64089A>G (TTN) | NP_596869.4:p.Pro21363= | |
| NM_133432.3:c.44973A>G (TTN) | NP_597676.3:p.Pro14991= | |
| NM_133437.4:c.45174A>G (TTN) | NP_597681.4:p.Pro15058= | |
| NR_038271.1:n.596+2890T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-8233T>C (TTN-AS1) | ||
| XM_011511729.1:c.70890A>G (TTN) | XP_011510031.1:p.Pro23630= | |
| XM_011511730.1:c.44784A>G (TTN) | XP_011510032.1:p.Pro14928= | |
| XM_011511731.1:c.44643A>G (TTN) | XP_011510033.1:p.Pro14881= | |
| XM_017004819.1:c.70686A>G (TTN) | XP_016860308.1:p.Pro23562= | |
| XM_017004820.1:c.66084A>G (TTN) | XP_016860309.1:p.Pro22028= | |
| XM_017004821.1:c.66081A>G (TTN) | XP_016860310.1:p.Pro22027= | |
| XM_017004822.1:c.63123A>G (TTN) | XP_016860311.1:p.Pro21041= | |
| XM_017004823.1:c.44739A>G (TTN) | XP_016860312.1:p.Pro14913= | |
| XM_024453094.1:c.66234A>G (TTN) | XP_024308862.1:p.Pro22078= | |
| XM_024453095.1:c.66231A>G (TTN) | XP_024308863.1:p.Pro22077= | |
| XM_024453096.1:c.65664A>G (TTN) | XP_024308864.1:p.Pro21888= | |
| XM_024453097.1:c.63006A>G (TTN) | XP_024308865.1:p.Pro21002= | |
| XM_024453098.1:c.62925A>G (TTN) | XP_024308866.1:p.Pro20975= | |
| XM_024453099.1:c.44688A>G (TTN) | XP_024308867.1:p.Pro14896= | |
| XM_024453100.1:c.34542A>G (TTN) | XP_024308868.1:p.Pro11514= |