Linked Data
ClinVar Variation Id:
179040
dbSNP Id:
rs374902148
ExAC:
2:179423075 C / T
gnomAD v2:
2-179423075-C-T
gnomAD v3:
2-178558348-C-T
gnomAD v4:
2-178558348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558348C>T , CM000664.2:g.178558348C>T | GRCh38 |
| NC_000002.11:g.179423075C>T , CM000664.1:g.179423075C>T | GRCh37 |
| NC_000002.10:g.179131321C>T | NCBI36 |
| NG_011618.3:g.277455G>A , LRG_391:g.277455G>A | |
| NG_051363.1:g.40522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79407G>A (TTN) | ENSP00000343764.6:p.Glu26469= | |
| ENST00000342175.11:c.60492G>A (TTN) | ENSP00000340554.6:p.Glu20164= | |
| ENST00000359218.10:c.60291G>A (TTN) | ENSP00000352154.5:p.Glu20097= | |
| ENST00000342175.10:c.60492G>A (TTN) | ENSP00000340554.6:p.Glu20164= | |
| ENST00000342992.10:c.79407G>A (TTN) | ENSP00000343764.6:p.Glu26469= | |
| ENST00000359218.9:c.60291G>A (TTN) | ENSP00000352154.5:p.Glu20097= | |
| ENST00000460472.6:c.59916G>A (TTN) | ENSP00000434586.1:p.Glu19972= | |
| ENST00000589042.5:c.87111G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu29037= | |
| ENST00000591111.5:c.82188G>A (TTN) | ENSP00000465570.1:p.Glu27396= | |
| ENST00000615779.4:c.82188G>A (TTN) | ENSP00000483597.1:p.Glu27396= | |
| NM_001256850.1:c.82188G>A (TTN) | NP_001243779.1:p.Glu27396= | |
| NM_001267550.2:c.87111G>A (TTN) MANE Select | NP_001254479.2:p.Glu29037= | |
| NM_003319.4:c.59916G>A (TTN) | NP_003310.4:p.Glu19972= | |
| NM_133378.4:c.79407G>A (TTN) | NP_596869.4:p.Glu26469= | |
| NM_133432.3:c.60291G>A (TTN) | NP_597676.3:p.Glu20097= | |
| NM_133437.4:c.60492G>A (TTN) | NP_597681.4:p.Glu20164= | |
| NR_038271.1:n.447-12952C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15987C>T (TTN-AS1) | ||
| XM_011511729.1:c.86208G>A (TTN) | XP_011510031.1:p.Glu28736= | |
| XM_011511730.1:c.60102G>A (TTN) | XP_011510032.1:p.Glu20034= | |
| XM_011511731.1:c.59961G>A (TTN) | XP_011510033.1:p.Glu19987= | |
| XM_017004819.1:c.86004G>A (TTN) | XP_016860308.1:p.Glu28668= | |
| XM_017004820.1:c.81402G>A (TTN) | XP_016860309.1:p.Glu27134= | |
| XM_017004821.1:c.81399G>A (TTN) | XP_016860310.1:p.Glu27133= | |
| XM_017004822.1:c.78441G>A (TTN) | XP_016860311.1:p.Glu26147= | |
| XM_017004823.1:c.60057G>A (TTN) | XP_016860312.1:p.Glu20019= | |
| XM_024453094.1:c.81552G>A (TTN) | XP_024308862.1:p.Glu27184= | |
| XM_024453095.1:c.81549G>A (TTN) | XP_024308863.1:p.Glu27183= | |
| XM_024453096.1:c.80982G>A (TTN) | XP_024308864.1:p.Glu26994= | |
| XM_024453097.1:c.78324G>A (TTN) | XP_024308865.1:p.Glu26108= | |
| XM_024453098.1:c.78243G>A (TTN) | XP_024308866.1:p.Glu26081= | |
| XM_024453099.1:c.60006G>A (TTN) | XP_024308867.1:p.Glu20002= | |
| XM_024453100.1:c.49860G>A (TTN) | XP_024308868.1:p.Glu16620= |