Linked Data
dbSNP Id:
rs1426333344
gnomAD v2:
2-179457924-G-A
gnomAD v3:
2-178593197-G-A
gnomAD v4:
2-178593197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593197G>A , CM000664.2:g.178593197G>A | GRCh38 |
| NC_000002.11:g.179457924G>A , CM000664.1:g.179457924G>A | GRCh37 |
| NC_000002.10:g.179166170G>A | NCBI36 |
| NG_011618.3:g.242606C>T , LRG_391:g.242606C>T | |
| NG_051363.1:g.75371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51307C>T (TTN) | ENSP00000343764.6:p.Pro17103Ser | |
| ENST00000342175.11:c.32392C>T (TTN) | ENSP00000340554.6:p.Pro10798Ser | |
| ENST00000359218.10:c.32191C>T (TTN) | ENSP00000352154.5:p.Pro10731Ser | |
| ENST00000342175.10:c.32392C>T (TTN) | ENSP00000340554.6:p.Pro10798Ser | |
| ENST00000342992.10:c.51307C>T (TTN) | ENSP00000343764.6:p.Pro17103Ser | |
| ENST00000359218.9:c.32191C>T (TTN) | ENSP00000352154.5:p.Pro10731Ser | |
| ENST00000460472.6:c.31816C>T (TTN) | ENSP00000434586.1:p.Pro10606Ser | |
| ENST00000589042.5:c.59011C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro19671Ser | |
| ENST00000591111.5:c.54088C>T (TTN) | ENSP00000465570.1:p.Pro18030Ser | |
| ENST00000615779.4:c.54088C>T (TTN) | ENSP00000483597.1:p.Pro18030Ser | |
| NM_001256850.1:c.54088C>T (TTN) | NP_001243779.1:p.Pro18030Ser | |
| NM_001267550.2:c.59011C>T (TTN) MANE Select | NP_001254479.2:p.Pro19671Ser | |
| NM_003319.4:c.31816C>T (TTN) | NP_003310.4:p.Pro10606Ser | |
| NM_133378.4:c.51307C>T (TTN) | NP_596869.4:p.Pro17103Ser | |
| NM_133432.3:c.32191C>T (TTN) | NP_597676.3:p.Pro10731Ser | |
| NM_133437.4:c.32392C>T (TTN) | NP_597681.4:p.Pro10798Ser | |
| NR_038271.1:n.597-4399G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1883G>A (TTN-AS1) | ||
| XM_011511729.1:c.58108C>T (TTN) | XP_011510031.1:p.Pro19370Ser | |
| XM_011511730.1:c.32002C>T (TTN) | XP_011510032.1:p.Pro10668Ser | |
| XM_011511731.1:c.31861C>T (TTN) | XP_011510033.1:p.Pro10621Ser | |
| XM_017004819.1:c.57904C>T (TTN) | XP_016860308.1:p.Pro19302Ser | |
| XM_017004820.1:c.53302C>T (TTN) | XP_016860309.1:p.Pro17768Ser | |
| XM_017004821.1:c.53299C>T (TTN) | XP_016860310.1:p.Pro17767Ser | |
| XM_017004822.1:c.50341C>T (TTN) | XP_016860311.1:p.Pro16781Ser | |
| XM_017004823.1:c.31957C>T (TTN) | XP_016860312.1:p.Pro10653Ser | |
| XM_024453094.1:c.53452C>T (TTN) | XP_024308862.1:p.Pro17818Ser | |
| XM_024453095.1:c.53449C>T (TTN) | XP_024308863.1:p.Pro17817Ser | |
| XM_024453096.1:c.52882C>T (TTN) | XP_024308864.1:p.Pro17628Ser | |
| XM_024453097.1:c.50224C>T (TTN) | XP_024308865.1:p.Pro16742Ser | |
| XM_024453098.1:c.50143C>T (TTN) | XP_024308866.1:p.Pro16715Ser | |
| XM_024453099.1:c.31906C>T (TTN) | XP_024308867.1:p.Pro10636Ser | |
| XM_024453100.1:c.21760C>T (TTN) | XP_024308868.1:p.Pro7254Ser |