Linked Data
dbSNP Id:
rs748522179
ExAC:
2:179449305 C / T
gnomAD v2:
2-179449305-C-T
gnomAD v4:
2-178584578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584578C>T , CM000664.2:g.178584578C>T | GRCh38 |
| NC_000002.11:g.179449305C>T , CM000664.1:g.179449305C>T | GRCh37 |
| NC_000002.10:g.179157551C>T | NCBI36 |
| NG_011618.3:g.251225G>A , LRG_391:g.251225G>A | |
| NG_051363.1:g.66752C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.57269G>A (TTN) | ENSP00000343764.6:p.Gly19090Asp | |
| ENST00000342175.11:c.38354G>A (TTN) | ENSP00000340554.6:p.Gly12785Asp | |
| ENST00000359218.10:c.38153G>A (TTN) | ENSP00000352154.5:p.Gly12718Asp | |
| ENST00000342175.10:c.38354G>A (TTN) | ENSP00000340554.6:p.Gly12785Asp | |
| ENST00000342992.10:c.57269G>A (TTN) | ENSP00000343764.6:p.Gly19090Asp | |
| ENST00000359218.9:c.38153G>A (TTN) | ENSP00000352154.5:p.Gly12718Asp | |
| ENST00000460472.6:c.37778G>A (TTN) | ENSP00000434586.1:p.Gly12593Asp | |
| ENST00000589042.5:c.64973G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly21658Asp | |
| ENST00000591111.5:c.60050G>A (TTN) | ENSP00000465570.1:p.Gly20017Asp | |
| ENST00000615779.4:c.60050G>A (TTN) | ENSP00000483597.1:p.Gly20017Asp | |
| NM_001256850.1:c.60050G>A (TTN) | NP_001243779.1:p.Gly20017Asp | |
| NM_001267550.2:c.64973G>A (TTN) MANE Select | NP_001254479.2:p.Gly21658Asp | |
| NM_003319.4:c.37778G>A (TTN) | NP_003310.4:p.Gly12593Asp | |
| NM_133378.4:c.57269G>A (TTN) | NP_596869.4:p.Gly19090Asp | |
| NM_133432.3:c.38153G>A (TTN) | NP_597676.3:p.Gly12718Asp | |
| NM_133437.4:c.38354G>A (TTN) | NP_597681.4:p.Gly12785Asp | |
| NR_038271.1:n.597-13018C>T (TTN-AS1) | ||
| NR_038272.1:n.2773C>T (TTN-AS1) | ||
| XM_011511729.1:c.64070G>A (TTN) | XP_011510031.1:p.Gly21357Asp | |
| XM_011511730.1:c.37964G>A (TTN) | XP_011510032.1:p.Gly12655Asp | |
| XM_011511731.1:c.37823G>A (TTN) | XP_011510033.1:p.Gly12608Asp | |
| XM_017004819.1:c.63866G>A (TTN) | XP_016860308.1:p.Gly21289Asp | |
| XM_017004820.1:c.59264G>A (TTN) | XP_016860309.1:p.Gly19755Asp | |
| XM_017004821.1:c.59261G>A (TTN) | XP_016860310.1:p.Gly19754Asp | |
| XM_017004822.1:c.56303G>A (TTN) | XP_016860311.1:p.Gly18768Asp | |
| XM_017004823.1:c.37919G>A (TTN) | XP_016860312.1:p.Gly12640Asp | |
| XM_024453094.1:c.59414G>A (TTN) | XP_024308862.1:p.Gly19805Asp | |
| XM_024453095.1:c.59411G>A (TTN) | XP_024308863.1:p.Gly19804Asp | |
| XM_024453096.1:c.58844G>A (TTN) | XP_024308864.1:p.Gly19615Asp | |
| XM_024453097.1:c.56186G>A (TTN) | XP_024308865.1:p.Gly18729Asp | |
| XM_024453098.1:c.56105G>A (TTN) | XP_024308866.1:p.Gly18702Asp | |
| XM_024453099.1:c.37868G>A (TTN) | XP_024308867.1:p.Gly12623Asp | |
| XM_024453100.1:c.27722G>A (TTN) | XP_024308868.1:p.Gly9241Asp |