Linked Data
ClinVar Variation Id:
238812
dbSNP Id:
rs539868284
ExAC:
2:179458411 C / A
gnomAD v2:
2-179458411-C-A
gnomAD v3:
2-178593684-C-A
gnomAD v4:
2-178593684-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593684C>A , CM000664.2:g.178593684C>A | GRCh38 |
| NC_000002.11:g.179458411C>A , CM000664.1:g.179458411C>A | GRCh37 |
| NC_000002.10:g.179166657C>A | NCBI36 |
| NG_011618.3:g.242119G>T , LRG_391:g.242119G>T | |
| NG_051363.1:g.75858C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50912G>T (TTN) | ENSP00000343764.6:p.Cys16971Phe | |
| ENST00000342175.11:c.31997G>T (TTN) | ENSP00000340554.6:p.Cys10666Phe | |
| ENST00000359218.10:c.31796G>T (TTN) | ENSP00000352154.5:p.Cys10599Phe | |
| ENST00000342175.10:c.31997G>T (TTN) | ENSP00000340554.6:p.Cys10666Phe | |
| ENST00000342992.10:c.50912G>T (TTN) | ENSP00000343764.6:p.Cys16971Phe | |
| ENST00000359218.9:c.31796G>T (TTN) | ENSP00000352154.5:p.Cys10599Phe | |
| ENST00000460472.6:c.31421G>T (TTN) | ENSP00000434586.1:p.Cys10474Phe | |
| ENST00000589042.5:c.58616G>T (TTN) MANE Select | ENSP00000467141.1:p.Cys19539Phe | |
| ENST00000591111.5:c.53693G>T (TTN) | ENSP00000465570.1:p.Cys17898Phe | |
| ENST00000615779.4:c.53693G>T (TTN) | ENSP00000483597.1:p.Cys17898Phe | |
| NM_001256850.1:c.53693G>T (TTN) | NP_001243779.1:p.Cys17898Phe | |
| NM_001267550.2:c.58616G>T (TTN) MANE Select | NP_001254479.2:p.Cys19539Phe | |
| NM_003319.4:c.31421G>T (TTN) | NP_003310.4:p.Cys10474Phe | |
| NM_133378.4:c.50912G>T (TTN) | NP_596869.4:p.Cys16971Phe | |
| NM_133432.3:c.31796G>T (TTN) | NP_597676.3:p.Cys10599Phe | |
| NM_133437.4:c.31997G>T (TTN) | NP_597681.4:p.Cys10666Phe | |
| NR_038271.1:n.597-3912C>A (TTN-AS1) | ||
| NR_038272.1:n.3364+2370C>A (TTN-AS1) | ||
| XM_011511729.1:c.57713G>T (TTN) | XP_011510031.1:p.Cys19238Phe | |
| XM_011511730.1:c.31607G>T (TTN) | XP_011510032.1:p.Cys10536Phe | |
| XM_011511731.1:c.31466G>T (TTN) | XP_011510033.1:p.Cys10489Phe | |
| XM_017004819.1:c.57509G>T (TTN) | XP_016860308.1:p.Cys19170Phe | |
| XM_017004820.1:c.52907G>T (TTN) | XP_016860309.1:p.Cys17636Phe | |
| XM_017004821.1:c.52904G>T (TTN) | XP_016860310.1:p.Cys17635Phe | |
| XM_017004822.1:c.49946G>T (TTN) | XP_016860311.1:p.Cys16649Phe | |
| XM_017004823.1:c.31562G>T (TTN) | XP_016860312.1:p.Cys10521Phe | |
| XM_024453094.1:c.53057G>T (TTN) | XP_024308862.1:p.Cys17686Phe | |
| XM_024453095.1:c.53054G>T (TTN) | XP_024308863.1:p.Cys17685Phe | |
| XM_024453096.1:c.52487G>T (TTN) | XP_024308864.1:p.Cys17496Phe | |
| XM_024453097.1:c.49829G>T (TTN) | XP_024308865.1:p.Cys16610Phe | |
| XM_024453098.1:c.49748G>T (TTN) | XP_024308866.1:p.Cys16583Phe | |
| XM_024453099.1:c.31511G>T (TTN) | XP_024308867.1:p.Cys10504Phe | |
| XM_024453100.1:c.21365G>T (TTN) | XP_024308868.1:p.Cys7122Phe |