Linked Data
ClinVar Variation Id:
191957
dbSNP Id:
rs184815126
ExAC:
2:179481680 G / A
gnomAD v2:
2-179481680-G-A
gnomAD v3:
2-178616953-G-A
gnomAD v4:
2-178616953-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616953G>A , CM000664.2:g.178616953G>A | GRCh38 |
| NC_000002.11:g.179481680G>A , CM000664.1:g.179481680G>A | GRCh37 |
| NC_000002.10:g.179189925G>A | NCBI36 |
| NG_011618.3:g.218850C>T , LRG_391:g.218850C>T | |
| NG_051363.1:g.99127G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.40232C>T (TTN) | ENSP00000343764.6:p.Pro13411Leu | |
| ENST00000342175.11:c.21317C>T (TTN) | ENSP00000340554.6:p.Pro7106Leu | |
| ENST00000359218.10:c.21116C>T (TTN) | ENSP00000352154.5:p.Pro7039Leu | |
| ENST00000342175.10:c.21317C>T (TTN) | ENSP00000340554.6:p.Pro7106Leu | |
| ENST00000342992.10:c.40232C>T (TTN) | ENSP00000343764.6:p.Pro13411Leu | |
| ENST00000359218.9:c.21116C>T (TTN) | ENSP00000352154.5:p.Pro7039Leu | |
| ENST00000460472.6:c.20741C>T (TTN) | ENSP00000434586.1:p.Pro6914Leu | |
| ENST00000589042.5:c.47936C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro15979Leu | |
| ENST00000591111.5:c.43013C>T (TTN) | ENSP00000465570.1:p.Pro14338Leu | |
| ENST00000615779.4:c.43013C>T (TTN) | ENSP00000483597.1:p.Pro14338Leu | |
| NM_001256850.1:c.43013C>T (TTN) | NP_001243779.1:p.Pro14338Leu | |
| NM_001267550.2:c.47936C>T (TTN) MANE Select | NP_001254479.2:p.Pro15979Leu | |
| NM_003319.4:c.20741C>T (TTN) | NP_003310.4:p.Pro6914Leu | |
| NM_133378.4:c.40232C>T (TTN) | NP_596869.4:p.Pro13411Leu | |
| NM_133432.3:c.21116C>T (TTN) | NP_597676.3:p.Pro7039Leu | |
| NM_133437.4:c.21317C>T (TTN) | NP_597681.4:p.Pro7106Leu | |
| NR_038271.1:n.1604+1579G>A (TTN-AS1) | ||
| XM_011511729.1:c.47033C>T (TTN) | XP_011510031.1:p.Pro15678Leu | |
| XM_011511730.1:c.20927C>T (TTN) | XP_011510032.1:p.Pro6976Leu | |
| XM_011511731.1:c.20786C>T (TTN) | XP_011510033.1:p.Pro6929Leu | |
| XM_017004819.1:c.46829C>T (TTN) | XP_016860308.1:p.Pro15610Leu | |
| XM_017004820.1:c.42227C>T (TTN) | XP_016860309.1:p.Pro14076Leu | |
| XM_017004821.1:c.42224C>T (TTN) | XP_016860310.1:p.Pro14075Leu | |
| XM_017004822.1:c.39266C>T (TTN) | XP_016860311.1:p.Pro13089Leu | |
| XM_017004823.1:c.20882C>T (TTN) | XP_016860312.1:p.Pro6961Leu | |
| XM_024453094.1:c.42377C>T (TTN) | XP_024308862.1:p.Pro14126Leu | |
| XM_024453095.1:c.42374C>T (TTN) | XP_024308863.1:p.Pro14125Leu | |
| XM_024453096.1:c.41807C>T (TTN) | XP_024308864.1:p.Pro13936Leu | |
| XM_024453097.1:c.39149C>T (TTN) | XP_024308865.1:p.Pro13050Leu | |
| XM_024453098.1:c.39068C>T (TTN) | XP_024308866.1:p.Pro13023Leu | |
| XM_024453099.1:c.20831C>T (TTN) | XP_024308867.1:p.Pro6944Leu | |
| XM_024453100.1:c.10685C>T (TTN) | XP_024308868.1:p.Pro3562Leu |