Linked Data
dbSNP Id:
rs746612800
ExAC:
2:179482869 C / T
gnomAD v2:
2-179482869-C-T
gnomAD v3:
2-178618142-C-T
gnomAD v4:
2-178618142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618142C>T , CM000664.2:g.178618142C>T | GRCh38 |
| NC_000002.11:g.179482869C>T , CM000664.1:g.179482869C>T | GRCh37 |
| NC_000002.10:g.179191114C>T | NCBI36 |
| NG_011618.3:g.217661G>A , LRG_391:g.217661G>A | |
| NG_051363.1:g.100316C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.39565+47G>A (TTN) | ENSP00000343764.6:n.39565+47G>A | |
| ENST00000342175.11:c.20650+47G>A (TTN) | ENSP00000340554.6:n.20650+47G>A | |
| ENST00000359218.10:c.20449+47G>A (TTN) | ENSP00000352154.5:n.20449+47G>A | |
| ENST00000342175.10:c.20650+47G>A (TTN) | ENSP00000340554.6:n.20650+47G>A | |
| ENST00000342992.10:c.39565+47G>A (TTN) | ENSP00000343764.6:n.39565+47G>A | |
| ENST00000359218.9:c.20449+47G>A (TTN) | ENSP00000352154.5:n.20449+47G>A | |
| ENST00000460472.6:c.20074+47G>A (TTN) | ENSP00000434586.1:n.20074+47G>A | |
| ENST00000589042.5:c.47269+47G>A (TTN) MANE Select | ENSP00000467141.1:n.47269+47G>A | |
| ENST00000591111.5:c.42346+47G>A (TTN) | ENSP00000465570.1:n.42346+47G>A | |
| ENST00000615779.4:c.42346+47G>A (TTN) | ENSP00000483597.1:n.42346+47G>A | |
| NM_001256850.1:c.42346+47G>A (TTN) | NP_001243779.1:n.42346+47G>A | |
| NM_001267550.2:c.47269+47G>A (TTN) MANE Select | NP_001254479.2:n.47269+47G>A | |
| NM_003319.4:c.20074+47G>A (TTN) | NP_003310.4:n.20074+47G>A | |
| NM_133378.4:c.39565+47G>A (TTN) | NP_596869.4:n.39565+47G>A | |
| NM_133432.3:c.20449+47G>A (TTN) | NP_597676.3:n.20449+47G>A | |
| NM_133437.4:c.20650+47G>A (TTN) | NP_597681.4:n.20650+47G>A | |
| NR_038271.1:n.1605-1611C>T (TTN-AS1) | ||
| XM_011511729.1:c.46366+47G>A (TTN) | XP_011510031.1:n.46366+47G>A | |
| XM_011511730.1:c.20260+47G>A (TTN) | XP_011510032.1:n.20260+47G>A | |
| XM_011511731.1:c.20119+47G>A (TTN) | XP_011510033.1:n.20119+47G>A | |
| XM_017004819.1:c.46162+47G>A (TTN) | XP_016860308.1:n.46162+47G>A | |
| XM_017004820.1:c.41560+47G>A (TTN) | XP_016860309.1:n.41560+47G>A | |
| XM_017004821.1:c.41557+47G>A (TTN) | XP_016860310.1:n.41557+47G>A | |
| XM_017004822.1:c.38599+47G>A (TTN) | XP_016860311.1:n.38599+47G>A | |
| XM_017004823.1:c.20215+47G>A (TTN) | XP_016860312.1:n.20215+47G>A | |
| XM_024453094.1:c.41710+47G>A (TTN) | XP_024308862.1:n.41710+47G>A | |
| XM_024453095.1:c.41707+47G>A (TTN) | XP_024308863.1:n.41707+47G>A | |
| XM_024453096.1:c.41140+47G>A (TTN) | XP_024308864.1:n.41140+47G>A | |
| XM_024453097.1:c.38482+47G>A (TTN) | XP_024308865.1:n.38482+47G>A | |
| XM_024453098.1:c.38401+47G>A (TTN) | XP_024308866.1:n.38401+47G>A | |
| XM_024453099.1:c.20164+47G>A (TTN) | XP_024308867.1:n.20164+47G>A | |
| XM_024453100.1:c.10018+47G>A (TTN) | XP_024308868.1:n.10018+47G>A |