Linked Data
ClinVar Variation Id:
501484
dbSNP Id:
rs1367055779
gnomAD v2:
2-179483106-A-C
gnomAD v3:
2-178618379-A-C
gnomAD v4:
2-178618379-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618379A>C , CM000664.2:g.178618379A>C | GRCh38 |
| NC_000002.11:g.179483106A>C , CM000664.1:g.179483106A>C | GRCh37 |
| NC_000002.10:g.179191351A>C | NCBI36 |
| NG_011618.3:g.217424T>G , LRG_391:g.217424T>G | |
| NG_051363.1:g.100553A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39375T>G (TTN) | ENSP00000343764.6:p.Val13125= | |
| ENST00000342175.11:c.20460T>G (TTN) | ENSP00000340554.6:p.Val6820= | |
| ENST00000359218.10:c.20259T>G (TTN) | ENSP00000352154.5:p.Val6753= | |
| ENST00000342175.10:c.20460T>G (TTN) | ENSP00000340554.6:p.Val6820= | |
| ENST00000342992.10:c.39375T>G (TTN) | ENSP00000343764.6:p.Val13125= | |
| ENST00000359218.9:c.20259T>G (TTN) | ENSP00000352154.5:p.Val6753= | |
| ENST00000460472.6:c.19884T>G (TTN) | ENSP00000434586.1:p.Val6628= | |
| ENST00000589042.5:c.47079T>G (TTN) MANE Select | ENSP00000467141.1:p.Val15693= | |
| ENST00000591111.5:c.42156T>G (TTN) | ENSP00000465570.1:p.Val14052= | |
| ENST00000615779.4:c.42156T>G (TTN) | ENSP00000483597.1:p.Val14052= | |
| NM_001256850.1:c.42156T>G (TTN) | NP_001243779.1:p.Val14052= | |
| NM_001267550.2:c.47079T>G (TTN) MANE Select | NP_001254479.2:p.Val15693= | |
| NM_003319.4:c.19884T>G (TTN) | NP_003310.4:p.Val6628= | |
| NM_133378.4:c.39375T>G (TTN) | NP_596869.4:p.Val13125= | |
| NM_133432.3:c.20259T>G (TTN) | NP_597676.3:p.Val6753= | |
| NM_133437.4:c.20460T>G (TTN) | NP_597681.4:p.Val6820= | |
| NR_038271.1:n.1605-1374A>C (TTN-AS1) | ||
| XM_011511729.1:c.46176T>G (TTN) | XP_011510031.1:p.Val15392= | |
| XM_011511730.1:c.20070T>G (TTN) | XP_011510032.1:p.Val6690= | |
| XM_011511731.1:c.19929T>G (TTN) | XP_011510033.1:p.Val6643= | |
| XM_017004819.1:c.45972T>G (TTN) | XP_016860308.1:p.Val15324= | |
| XM_017004820.1:c.41370T>G (TTN) | XP_016860309.1:p.Val13790= | |
| XM_017004821.1:c.41367T>G (TTN) | XP_016860310.1:p.Val13789= | |
| XM_017004822.1:c.38409T>G (TTN) | XP_016860311.1:p.Val12803= | |
| XM_017004823.1:c.20025T>G (TTN) | XP_016860312.1:p.Val6675= | |
| XM_024453094.1:c.41520T>G (TTN) | XP_024308862.1:p.Val13840= | |
| XM_024453095.1:c.41517T>G (TTN) | XP_024308863.1:p.Val13839= | |
| XM_024453096.1:c.40950T>G (TTN) | XP_024308864.1:p.Val13650= | |
| XM_024453097.1:c.38292T>G (TTN) | XP_024308865.1:p.Val12764= | |
| XM_024453098.1:c.38211T>G (TTN) | XP_024308866.1:p.Val12737= | |
| XM_024453099.1:c.19974T>G (TTN) | XP_024308867.1:p.Val6658= | |
| XM_024453100.1:c.9828T>G (TTN) | XP_024308868.1:p.Val3276= |