Linked Data
dbSNP Id:
rs776257317
ExAC:
2:179457804 G / A
gnomAD v2:
2-179457804-G-A
gnomAD v4:
2-178593077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593077G>A , CM000664.2:g.178593077G>A | GRCh38 |
| NC_000002.11:g.179457804G>A , CM000664.1:g.179457804G>A | GRCh37 |
| NC_000002.10:g.179166050G>A | NCBI36 |
| NG_011618.3:g.242726C>T , LRG_391:g.242726C>T | |
| NG_051363.1:g.75251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51338C>T (TTN) | ENSP00000343764.6:p.Pro17113Leu | |
| ENST00000342175.11:c.32423C>T (TTN) | ENSP00000340554.6:p.Pro10808Leu | |
| ENST00000359218.10:c.32222C>T (TTN) | ENSP00000352154.5:p.Pro10741Leu | |
| ENST00000342175.10:c.32423C>T (TTN) | ENSP00000340554.6:p.Pro10808Leu | |
| ENST00000342992.10:c.51338C>T (TTN) | ENSP00000343764.6:p.Pro17113Leu | |
| ENST00000359218.9:c.32222C>T (TTN) | ENSP00000352154.5:p.Pro10741Leu | |
| ENST00000460472.6:c.31847C>T (TTN) | ENSP00000434586.1:p.Pro10616Leu | |
| ENST00000589042.5:c.59042C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro19681Leu | |
| ENST00000591111.5:c.54119C>T (TTN) | ENSP00000465570.1:p.Pro18040Leu | |
| ENST00000615779.4:c.54119C>T (TTN) | ENSP00000483597.1:p.Pro18040Leu | |
| NM_001256850.1:c.54119C>T (TTN) | NP_001243779.1:p.Pro18040Leu | |
| NM_001267550.2:c.59042C>T (TTN) MANE Select | NP_001254479.2:p.Pro19681Leu | |
| NM_003319.4:c.31847C>T (TTN) | NP_003310.4:p.Pro10616Leu | |
| NM_133378.4:c.51338C>T (TTN) | NP_596869.4:p.Pro17113Leu | |
| NM_133432.3:c.32222C>T (TTN) | NP_597676.3:p.Pro10741Leu | |
| NM_133437.4:c.32423C>T (TTN) | NP_597681.4:p.Pro10808Leu | |
| NR_038271.1:n.597-4519G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1763G>A (TTN-AS1) | ||
| XM_011511729.1:c.58139C>T (TTN) | XP_011510031.1:p.Pro19380Leu | |
| XM_011511730.1:c.32033C>T (TTN) | XP_011510032.1:p.Pro10678Leu | |
| XM_011511731.1:c.31892C>T (TTN) | XP_011510033.1:p.Pro10631Leu | |
| XM_017004819.1:c.57935C>T (TTN) | XP_016860308.1:p.Pro19312Leu | |
| XM_017004820.1:c.53333C>T (TTN) | XP_016860309.1:p.Pro17778Leu | |
| XM_017004821.1:c.53330C>T (TTN) | XP_016860310.1:p.Pro17777Leu | |
| XM_017004822.1:c.50372C>T (TTN) | XP_016860311.1:p.Pro16791Leu | |
| XM_017004823.1:c.31988C>T (TTN) | XP_016860312.1:p.Pro10663Leu | |
| XM_024453094.1:c.53483C>T (TTN) | XP_024308862.1:p.Pro17828Leu | |
| XM_024453095.1:c.53480C>T (TTN) | XP_024308863.1:p.Pro17827Leu | |
| XM_024453096.1:c.52913C>T (TTN) | XP_024308864.1:p.Pro17638Leu | |
| XM_024453097.1:c.50255C>T (TTN) | XP_024308865.1:p.Pro16752Leu | |
| XM_024453098.1:c.50174C>T (TTN) | XP_024308866.1:p.Pro16725Leu | |
| XM_024453099.1:c.31937C>T (TTN) | XP_024308867.1:p.Pro10646Leu | |
| XM_024453100.1:c.21791C>T (TTN) | XP_024308868.1:p.Pro7264Leu |