Linked Data
ClinVar Variation Id:
282890
ClinVar RCV Id:
RCV000725173
RCV001088861
RCV001132955
RCV001132956
RCV001132957
RCV001132958
RCV001132959
RCV002436099
RCV003955447
dbSNP Id:
rs373316165
ExAC:
2:179472273 A / G
gnomAD v2:
2-179472273-A-G
gnomAD v3:
2-178607546-A-G
gnomAD v4:
2-178607546-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607546A>G , CM000664.2:g.178607546A>G | GRCh38 |
| NC_000002.11:g.179472273A>G , CM000664.1:g.179472273A>G | GRCh37 |
| NC_000002.10:g.179180518A>G | NCBI36 |
| NG_011618.3:g.228257T>C , LRG_391:g.228257T>C | |
| NG_051363.1:g.89720A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.45438T>C (TTN) | ENSP00000343764.6:p.Asp15146= | |
| ENST00000342175.11:c.26523T>C (TTN) | ENSP00000340554.6:p.Asp8841= | |
| ENST00000359218.10:c.26322T>C (TTN) | ENSP00000352154.5:p.Asp8774= | |
| ENST00000342175.10:c.26523T>C (TTN) | ENSP00000340554.6:p.Asp8841= | |
| ENST00000342992.10:c.45438T>C (TTN) | ENSP00000343764.6:p.Asp15146= | |
| ENST00000359218.9:c.26322T>C (TTN) | ENSP00000352154.5:p.Asp8774= | |
| ENST00000460472.6:c.25947T>C (TTN) | ENSP00000434586.1:p.Asp8649= | |
| ENST00000589042.5:c.53142T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp17714= | |
| ENST00000591111.5:c.48219T>C (TTN) | ENSP00000465570.1:p.Asp16073= | |
| ENST00000615779.4:c.48219T>C (TTN) | ENSP00000483597.1:p.Asp16073= | |
| NM_001256850.1:c.48219T>C (TTN) | NP_001243779.1:p.Asp16073= | |
| NM_001267550.2:c.53142T>C (TTN) MANE Select | NP_001254479.2:p.Asp17714= | |
| NM_003319.4:c.25947T>C (TTN) | NP_003310.4:p.Asp8649= | |
| NM_133378.4:c.45438T>C (TTN) | NP_596869.4:p.Asp15146= | |
| NM_133432.3:c.26322T>C (TTN) | NP_597676.3:p.Asp8774= | |
| NM_133437.4:c.26523T>C (TTN) | NP_597681.4:p.Asp8841= | |
| NR_038271.1:n.683-621A>G (TTN-AS1) | ||
| XM_011511729.1:c.52239T>C (TTN) | XP_011510031.1:p.Asp17413= | |
| XM_011511730.1:c.26133T>C (TTN) | XP_011510032.1:p.Asp8711= | |
| XM_011511731.1:c.25992T>C (TTN) | XP_011510033.1:p.Asp8664= | |
| XM_017004819.1:c.52035T>C (TTN) | XP_016860308.1:p.Asp17345= | |
| XM_017004820.1:c.47433T>C (TTN) | XP_016860309.1:p.Asp15811= | |
| XM_017004821.1:c.47430T>C (TTN) | XP_016860310.1:p.Asp15810= | |
| XM_017004822.1:c.44472T>C (TTN) | XP_016860311.1:p.Asp14824= | |
| XM_017004823.1:c.26088T>C (TTN) | XP_016860312.1:p.Asp8696= | |
| XM_024453094.1:c.47583T>C (TTN) | XP_024308862.1:p.Asp15861= | |
| XM_024453095.1:c.47580T>C (TTN) | XP_024308863.1:p.Asp15860= | |
| XM_024453096.1:c.47013T>C (TTN) | XP_024308864.1:p.Asp15671= | |
| XM_024453097.1:c.44355T>C (TTN) | XP_024308865.1:p.Asp14785= | |
| XM_024453098.1:c.44274T>C (TTN) | XP_024308866.1:p.Asp14758= | |
| XM_024453099.1:c.26037T>C (TTN) | XP_024308867.1:p.Asp8679= | |
| XM_024453100.1:c.15891T>C (TTN) | XP_024308868.1:p.Asp5297= |