Linked Data
dbSNP Id:
rs765157072
ExAC:
2:179435371 G / A
gnomAD v2:
2-179435371-G-A
gnomAD v3:
2-178570644-G-A
gnomAD v4:
2-178570644-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570644G>A , CM000664.2:g.178570644G>A | GRCh38 |
| NC_000002.11:g.179435371G>A , CM000664.1:g.179435371G>A | GRCh37 |
| NC_000002.10:g.179143617G>A | NCBI36 |
| NG_011618.3:g.265159C>T , LRG_391:g.265159C>T | |
| NG_051363.1:g.52818G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.67784C>T (TTN) | ENSP00000343764.6:p.Thr22595Ile | |
| ENST00000342175.11:c.48869C>T (TTN) | ENSP00000340554.6:p.Thr16290Ile | |
| ENST00000359218.10:c.48668C>T (TTN) | ENSP00000352154.5:p.Thr16223Ile | |
| ENST00000342175.10:c.48869C>T (TTN) | ENSP00000340554.6:p.Thr16290Ile | |
| ENST00000342992.10:c.67784C>T (TTN) | ENSP00000343764.6:p.Thr22595Ile | |
| ENST00000359218.9:c.48668C>T (TTN) | ENSP00000352154.5:p.Thr16223Ile | |
| ENST00000460472.6:c.48293C>T (TTN) | ENSP00000434586.1:p.Thr16098Ile | |
| ENST00000589042.5:c.75488C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr25163Ile | |
| ENST00000591111.5:c.70565C>T (TTN) | ENSP00000465570.1:p.Thr23522Ile | |
| ENST00000615779.4:c.70565C>T (TTN) | ENSP00000483597.1:p.Thr23522Ile | |
| NM_001256850.1:c.70565C>T (TTN) | NP_001243779.1:p.Thr23522Ile | |
| NM_001267550.2:c.75488C>T (TTN) MANE Select | NP_001254479.2:p.Thr25163Ile | |
| NM_003319.4:c.48293C>T (TTN) | NP_003310.4:p.Thr16098Ile | |
| NM_133378.4:c.67784C>T (TTN) | NP_596869.4:p.Thr22595Ile | |
| NM_133432.3:c.48668C>T (TTN) | NP_597676.3:p.Thr16223Ile | |
| NM_133437.4:c.48869C>T (TTN) | NP_597681.4:p.Thr16290Ile | |
| NR_038271.1:n.447-656G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-11928G>A (TTN-AS1) | ||
| XM_011511729.1:c.74585C>T (TTN) | XP_011510031.1:p.Thr24862Ile | |
| XM_011511730.1:c.48479C>T (TTN) | XP_011510032.1:p.Thr16160Ile | |
| XM_011511731.1:c.48338C>T (TTN) | XP_011510033.1:p.Thr16113Ile | |
| XM_017004819.1:c.74381C>T (TTN) | XP_016860308.1:p.Thr24794Ile | |
| XM_017004820.1:c.69779C>T (TTN) | XP_016860309.1:p.Thr23260Ile | |
| XM_017004821.1:c.69776C>T (TTN) | XP_016860310.1:p.Thr23259Ile | |
| XM_017004822.1:c.66818C>T (TTN) | XP_016860311.1:p.Thr22273Ile | |
| XM_017004823.1:c.48434C>T (TTN) | XP_016860312.1:p.Thr16145Ile | |
| XM_024453094.1:c.69929C>T (TTN) | XP_024308862.1:p.Thr23310Ile | |
| XM_024453095.1:c.69926C>T (TTN) | XP_024308863.1:p.Thr23309Ile | |
| XM_024453096.1:c.69359C>T (TTN) | XP_024308864.1:p.Thr23120Ile | |
| XM_024453097.1:c.66701C>T (TTN) | XP_024308865.1:p.Thr22234Ile | |
| XM_024453098.1:c.66620C>T (TTN) | XP_024308866.1:p.Thr22207Ile | |
| XM_024453099.1:c.48383C>T (TTN) | XP_024308867.1:p.Thr16128Ile | |
| XM_024453100.1:c.38237C>T (TTN) | XP_024308868.1:p.Thr12746Ile |