Linked Data
dbSNP Id:
rs768561791
ExAC:
2:179456617 G / T
gnomAD v2:
2-179456617-G-T
gnomAD v4:
2-178591890-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591890G>T , CM000664.2:g.178591890G>T | GRCh38 |
| NC_000002.11:g.179456617G>T , CM000664.1:g.179456617G>T | GRCh37 |
| NC_000002.10:g.179164863G>T | NCBI36 |
| NG_011618.3:g.243913C>A , LRG_391:g.243913C>A | |
| NG_051363.1:g.74064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52225C>A (TTN) | ENSP00000343764.6:p.Pro17409Thr | |
| ENST00000342175.11:c.33310C>A (TTN) | ENSP00000340554.6:p.Pro11104Thr | |
| ENST00000359218.10:c.33109C>A (TTN) | ENSP00000352154.5:p.Pro11037Thr | |
| ENST00000342175.10:c.33310C>A (TTN) | ENSP00000340554.6:p.Pro11104Thr | |
| ENST00000342992.10:c.52225C>A (TTN) | ENSP00000343764.6:p.Pro17409Thr | |
| ENST00000359218.9:c.33109C>A (TTN) | ENSP00000352154.5:p.Pro11037Thr | |
| ENST00000460472.6:c.32734C>A (TTN) | ENSP00000434586.1:p.Pro10912Thr | |
| ENST00000589042.5:c.59929C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro19977Thr | |
| ENST00000591111.5:c.55006C>A (TTN) | ENSP00000465570.1:p.Pro18336Thr | |
| ENST00000615779.4:c.55006C>A (TTN) | ENSP00000483597.1:p.Pro18336Thr | |
| NM_001256850.1:c.55006C>A (TTN) | NP_001243779.1:p.Pro18336Thr | |
| NM_001267550.2:c.59929C>A (TTN) MANE Select | NP_001254479.2:p.Pro19977Thr | |
| NM_003319.4:c.32734C>A (TTN) | NP_003310.4:p.Pro10912Thr | |
| NM_133378.4:c.52225C>A (TTN) | NP_596869.4:p.Pro17409Thr | |
| NM_133432.3:c.33109C>A (TTN) | NP_597676.3:p.Pro11037Thr | |
| NM_133437.4:c.33310C>A (TTN) | NP_597681.4:p.Pro11104Thr | |
| NR_038271.1:n.597-5706G>T (TTN-AS1) | ||
| NR_038272.1:n.3364+576G>T (TTN-AS1) | ||
| XM_011511729.1:c.59026C>A (TTN) | XP_011510031.1:p.Pro19676Thr | |
| XM_011511730.1:c.32920C>A (TTN) | XP_011510032.1:p.Pro10974Thr | |
| XM_011511731.1:c.32779C>A (TTN) | XP_011510033.1:p.Pro10927Thr | |
| XM_017004819.1:c.58822C>A (TTN) | XP_016860308.1:p.Pro19608Thr | |
| XM_017004820.1:c.54220C>A (TTN) | XP_016860309.1:p.Pro18074Thr | |
| XM_017004821.1:c.54217C>A (TTN) | XP_016860310.1:p.Pro18073Thr | |
| XM_017004822.1:c.51259C>A (TTN) | XP_016860311.1:p.Pro17087Thr | |
| XM_017004823.1:c.32875C>A (TTN) | XP_016860312.1:p.Pro10959Thr | |
| XM_024453094.1:c.54370C>A (TTN) | XP_024308862.1:p.Pro18124Thr | |
| XM_024453095.1:c.54367C>A (TTN) | XP_024308863.1:p.Pro18123Thr | |
| XM_024453096.1:c.53800C>A (TTN) | XP_024308864.1:p.Pro17934Thr | |
| XM_024453097.1:c.51142C>A (TTN) | XP_024308865.1:p.Pro17048Thr | |
| XM_024453098.1:c.51061C>A (TTN) | XP_024308866.1:p.Pro17021Thr | |
| XM_024453099.1:c.32824C>A (TTN) | XP_024308867.1:p.Pro10942Thr | |
| XM_024453100.1:c.22678C>A (TTN) | XP_024308868.1:p.Pro7560Thr |