Linked Data
ClinVar Variation Id:
180573
dbSNP Id:
rs574660186
ExAC:
2:179444429 G / A
gnomAD v2:
2-179444429-G-A
gnomAD v3:
2-178579702-G-A
gnomAD v4:
2-178579702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579702G>A , CM000664.2:g.178579702G>A | GRCh38 |
| NC_000002.11:g.179444429G>A , CM000664.1:g.179444429G>A | GRCh37 |
| NC_000002.10:g.179152675G>A | NCBI36 |
| NG_011618.3:g.256101C>T , LRG_391:g.256101C>T | |
| NG_051363.1:g.61876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59791C>T (TTN) | ENSP00000343764.6:p.Arg19931Ter | |
| ENST00000342175.11:c.40876C>T (TTN) | ENSP00000340554.6:p.Arg13626Ter | |
| ENST00000359218.10:c.40675C>T (TTN) | ENSP00000352154.5:p.Arg13559Ter | |
| ENST00000342175.10:c.40876C>T (TTN) | ENSP00000340554.6:p.Arg13626Ter | |
| ENST00000342992.10:c.59791C>T (TTN) | ENSP00000343764.6:p.Arg19931Ter | |
| ENST00000359218.9:c.40675C>T (TTN) | ENSP00000352154.5:p.Arg13559Ter | |
| ENST00000460472.6:c.40300C>T (TTN) | ENSP00000434586.1:p.Arg13434Ter | |
| ENST00000589042.5:c.67495C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22499Ter | |
| ENST00000591111.5:c.62572C>T (TTN) | ENSP00000465570.1:p.Arg20858Ter | |
| ENST00000615779.4:c.62572C>T (TTN) | ENSP00000483597.1:p.Arg20858Ter | |
| NM_001256850.1:c.62572C>T (TTN) | NP_001243779.1:p.Arg20858Ter | |
| NM_001267550.2:c.67495C>T (TTN) MANE Select | NP_001254479.2:p.Arg22499Ter | |
| NM_003319.4:c.40300C>T (TTN) | NP_003310.4:p.Arg13434Ter | |
| NM_133378.4:c.59791C>T (TTN) | NP_596869.4:p.Arg19931Ter | |
| NM_133432.3:c.40675C>T (TTN) | NP_597676.3:p.Arg13559Ter | |
| NM_133437.4:c.40876C>T (TTN) | NP_597681.4:p.Arg13626Ter | |
| NR_038271.1:n.596+8253G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-2870G>A (TTN-AS1) | ||
| XM_011511729.1:c.66592C>T (TTN) | XP_011510031.1:p.Arg22198Ter | |
| XM_011511730.1:c.40486C>T (TTN) | XP_011510032.1:p.Arg13496Ter | |
| XM_011511731.1:c.40345C>T (TTN) | XP_011510033.1:p.Arg13449Ter | |
| XM_017004819.1:c.66388C>T (TTN) | XP_016860308.1:p.Arg22130Ter | |
| XM_017004820.1:c.61786C>T (TTN) | XP_016860309.1:p.Arg20596Ter | |
| XM_017004821.1:c.61783C>T (TTN) | XP_016860310.1:p.Arg20595Ter | |
| XM_017004822.1:c.58825C>T (TTN) | XP_016860311.1:p.Arg19609Ter | |
| XM_017004823.1:c.40441C>T (TTN) | XP_016860312.1:p.Arg13481Ter | |
| XM_024453094.1:c.61936C>T (TTN) | XP_024308862.1:p.Arg20646Ter | |
| XM_024453095.1:c.61933C>T (TTN) | XP_024308863.1:p.Arg20645Ter | |
| XM_024453096.1:c.61366C>T (TTN) | XP_024308864.1:p.Arg20456Ter | |
| XM_024453097.1:c.58708C>T (TTN) | XP_024308865.1:p.Arg19570Ter | |
| XM_024453098.1:c.58627C>T (TTN) | XP_024308866.1:p.Arg19543Ter | |
| XM_024453099.1:c.40390C>T (TTN) | XP_024308867.1:p.Arg13464Ter | |
| XM_024453100.1:c.30244C>T (TTN) | XP_024308868.1:p.Arg10082Ter |