Linked Data
ClinVar Variation Id:
191939
dbSNP Id:
rs200132226
ExAC:
2:179464373 G / A
gnomAD v2:
2-179464373-G-A
gnomAD v3:
2-178599646-G-A
gnomAD v4:
2-178599646-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599646G>A , CM000664.2:g.178599646G>A | GRCh38 |
| NC_000002.11:g.179464373G>A , CM000664.1:g.179464373G>A | GRCh37 |
| NC_000002.10:g.179172618G>A | NCBI36 |
| NG_011618.3:g.236157C>T , LRG_391:g.236157C>T | |
| NG_051363.1:g.81820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48551C>T (TTN) | ENSP00000343764.6:p.Pro16184Leu | |
| ENST00000342175.11:c.29636C>T (TTN) | ENSP00000340554.6:p.Pro9879Leu | |
| ENST00000359218.10:c.29435C>T (TTN) | ENSP00000352154.5:p.Pro9812Leu | |
| ENST00000342175.10:c.29636C>T (TTN) | ENSP00000340554.6:p.Pro9879Leu | |
| ENST00000342992.10:c.48551C>T (TTN) | ENSP00000343764.6:p.Pro16184Leu | |
| ENST00000359218.9:c.29435C>T (TTN) | ENSP00000352154.5:p.Pro9812Leu | |
| ENST00000460472.6:c.29060C>T (TTN) | ENSP00000434586.1:p.Pro9687Leu | |
| ENST00000589042.5:c.56255C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro18752Leu | |
| ENST00000591111.5:c.51332C>T (TTN) | ENSP00000465570.1:p.Pro17111Leu | |
| ENST00000615779.4:c.51332C>T (TTN) | ENSP00000483597.1:p.Pro17111Leu | |
| NM_001256850.1:c.51332C>T (TTN) | NP_001243779.1:p.Pro17111Leu | |
| NM_001267550.2:c.56255C>T (TTN) MANE Select | NP_001254479.2:p.Pro18752Leu | |
| NM_003319.4:c.29060C>T (TTN) | NP_003310.4:p.Pro9687Leu | |
| NM_133378.4:c.48551C>T (TTN) | NP_596869.4:p.Pro16184Leu | |
| NM_133432.3:c.29435C>T (TTN) | NP_597676.3:p.Pro9812Leu | |
| NM_133437.4:c.29636C>T (TTN) | NP_597681.4:p.Pro9879Leu | |
| NR_038271.1:n.682+1965G>A (TTN-AS1) | ||
| NR_038272.1:n.3621G>A (TTN-AS1) | ||
| XM_011511729.1:c.55352C>T (TTN) | XP_011510031.1:p.Pro18451Leu | |
| XM_011511730.1:c.29246C>T (TTN) | XP_011510032.1:p.Pro9749Leu | |
| XM_011511731.1:c.29105C>T (TTN) | XP_011510033.1:p.Pro9702Leu | |
| XM_017004819.1:c.55148C>T (TTN) | XP_016860308.1:p.Pro18383Leu | |
| XM_017004820.1:c.50546C>T (TTN) | XP_016860309.1:p.Pro16849Leu | |
| XM_017004821.1:c.50543C>T (TTN) | XP_016860310.1:p.Pro16848Leu | |
| XM_017004822.1:c.47585C>T (TTN) | XP_016860311.1:p.Pro15862Leu | |
| XM_017004823.1:c.29201C>T (TTN) | XP_016860312.1:p.Pro9734Leu | |
| XM_024453094.1:c.50696C>T (TTN) | XP_024308862.1:p.Pro16899Leu | |
| XM_024453095.1:c.50693C>T (TTN) | XP_024308863.1:p.Pro16898Leu | |
| XM_024453096.1:c.50126C>T (TTN) | XP_024308864.1:p.Pro16709Leu | |
| XM_024453097.1:c.47468C>T (TTN) | XP_024308865.1:p.Pro15823Leu | |
| XM_024453098.1:c.47387C>T (TTN) | XP_024308866.1:p.Pro15796Leu | |
| XM_024453099.1:c.29150C>T (TTN) | XP_024308867.1:p.Pro9717Leu | |
| XM_024453100.1:c.19004C>T (TTN) | XP_024308868.1:p.Pro6335Leu |