Linked Data
ClinVar Variation Id:
332748
dbSNP Id:
rs751860205
ExAC:
2:179426416 G / C
gnomAD v2:
2-179426416-G-C
gnomAD v3:
2-178561689-G-C
gnomAD v4:
2-178561689-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561689G>C , CM000664.2:g.178561689G>C | GRCh38 |
| NC_000002.11:g.179426416G>C , CM000664.1:g.179426416G>C | GRCh37 |
| NC_000002.10:g.179134662G>C | NCBI36 |
| NG_011618.3:g.274114C>G , LRG_391:g.274114C>G | |
| NG_051363.1:g.43863G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76739C>G (TTN) | ENSP00000343764.6:p.Ala25580Gly | |
| ENST00000342175.11:c.57824C>G (TTN) | ENSP00000340554.6:p.Ala19275Gly | |
| ENST00000359218.10:c.57623C>G (TTN) | ENSP00000352154.5:p.Ala19208Gly | |
| ENST00000342175.10:c.57824C>G (TTN) | ENSP00000340554.6:p.Ala19275Gly | |
| ENST00000342992.10:c.76739C>G (TTN) | ENSP00000343764.6:p.Ala25580Gly | |
| ENST00000359218.9:c.57623C>G (TTN) | ENSP00000352154.5:p.Ala19208Gly | |
| ENST00000460472.6:c.57248C>G (TTN) | ENSP00000434586.1:p.Ala19083Gly | |
| ENST00000589042.5:c.84443C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala28148Gly | |
| ENST00000591111.5:c.79520C>G (TTN) | ENSP00000465570.1:p.Ala26507Gly | |
| ENST00000615779.4:c.79520C>G (TTN) | ENSP00000483597.1:p.Ala26507Gly | |
| NM_001256850.1:c.79520C>G (TTN) | NP_001243779.1:p.Ala26507Gly | |
| NM_001267550.2:c.84443C>G (TTN) MANE Select | NP_001254479.2:p.Ala28148Gly | |
| NM_003319.4:c.57248C>G (TTN) | NP_003310.4:p.Ala19083Gly | |
| NM_133378.4:c.76739C>G (TTN) | NP_596869.4:p.Ala25580Gly | |
| NM_133432.3:c.57623C>G (TTN) | NP_597676.3:p.Ala19208Gly | |
| NM_133437.4:c.57824C>G (TTN) | NP_597681.4:p.Ala19275Gly | |
| NR_038271.1:n.447-9611G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+19328G>C (TTN-AS1) | ||
| XM_011511729.1:c.83540C>G (TTN) | XP_011510031.1:p.Ala27847Gly | |
| XM_011511730.1:c.57434C>G (TTN) | XP_011510032.1:p.Ala19145Gly | |
| XM_011511731.1:c.57293C>G (TTN) | XP_011510033.1:p.Ala19098Gly | |
| XM_017004819.1:c.83336C>G (TTN) | XP_016860308.1:p.Ala27779Gly | |
| XM_017004820.1:c.78734C>G (TTN) | XP_016860309.1:p.Ala26245Gly | |
| XM_017004821.1:c.78731C>G (TTN) | XP_016860310.1:p.Ala26244Gly | |
| XM_017004822.1:c.75773C>G (TTN) | XP_016860311.1:p.Ala25258Gly | |
| XM_017004823.1:c.57389C>G (TTN) | XP_016860312.1:p.Ala19130Gly | |
| XM_024453094.1:c.78884C>G (TTN) | XP_024308862.1:p.Ala26295Gly | |
| XM_024453095.1:c.78881C>G (TTN) | XP_024308863.1:p.Ala26294Gly | |
| XM_024453096.1:c.78314C>G (TTN) | XP_024308864.1:p.Ala26105Gly | |
| XM_024453097.1:c.75656C>G (TTN) | XP_024308865.1:p.Ala25219Gly | |
| XM_024453098.1:c.75575C>G (TTN) | XP_024308866.1:p.Ala25192Gly | |
| XM_024453099.1:c.57338C>G (TTN) | XP_024308867.1:p.Ala19113Gly | |
| XM_024453100.1:c.47192C>G (TTN) | XP_024308868.1:p.Ala15731Gly |