Linked Data
ClinVar Variation Id:
228173
dbSNP Id:
rs375361462
ExAC:
2:179403941 G / A
gnomAD v2:
2-179403941-G-A
gnomAD v3:
2-178539214-G-A
gnomAD v4:
2-178539214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539214G>A , CM000664.2:g.178539214G>A | GRCh38 |
| NC_000002.11:g.179403941G>A , CM000664.1:g.179403941G>A | GRCh37 |
| NC_000002.10:g.179112187G>A | NCBI36 |
| NG_011618.3:g.296589C>T , LRG_391:g.296589C>T | |
| NG_051363.1:g.21388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91017C>T (TTN) | ENSP00000343764.6:p.Leu30339= | |
| ENST00000342175.11:c.72102C>T (TTN) | ENSP00000340554.6:p.Leu24034= | |
| ENST00000359218.10:c.71901C>T (TTN) | ENSP00000352154.5:p.Leu23967= | |
| ENST00000342175.10:c.72102C>T (TTN) | ENSP00000340554.6:p.Leu24034= | |
| ENST00000342992.10:c.91017C>T (TTN) | ENSP00000343764.6:p.Leu30339= | |
| ENST00000359218.9:c.71901C>T (TTN) | ENSP00000352154.5:p.Leu23967= | |
| ENST00000460472.6:c.71526C>T (TTN) | ENSP00000434586.1:p.Leu23842= | |
| ENST00000589042.5:c.98721C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu32907= | |
| ENST00000591111.5:c.93798C>T (TTN) | ENSP00000465570.1:p.Leu31266= | |
| ENST00000615779.4:c.93798C>T (TTN) | ENSP00000483597.1:p.Leu31266= | |
| NM_001256850.1:c.93798C>T (TTN) | NP_001243779.1:p.Leu31266= | |
| NM_001267550.2:c.98721C>T (TTN) MANE Select | NP_001254479.2:p.Leu32907= | |
| NM_003319.4:c.71526C>T (TTN) | NP_003310.4:p.Leu23842= | |
| NM_133378.4:c.91017C>T (TTN) | NP_596869.4:p.Leu30339= | |
| NM_133432.3:c.71901C>T (TTN) | NP_597676.3:p.Leu23967= | |
| NM_133437.4:c.72102C>T (TTN) | NP_597681.4:p.Leu24034= | |
| NR_038271.1:n.446+15578G>A (TTN-AS1) | ||
| NR_038272.1:n.1164G>A (TTN-AS1) | ||
| XM_011511729.1:c.97818C>T (TTN) | XP_011510031.1:p.Leu32606= | |
| XM_011511730.1:c.71712C>T (TTN) | XP_011510032.1:p.Leu23904= | |
| XM_011511731.1:c.71571C>T (TTN) | XP_011510033.1:p.Leu23857= | |
| XM_017004819.1:c.97614C>T (TTN) | XP_016860308.1:p.Leu32538= | |
| XM_017004820.1:c.93012C>T (TTN) | XP_016860309.1:p.Leu31004= | |
| XM_017004821.1:c.93009C>T (TTN) | XP_016860310.1:p.Leu31003= | |
| XM_017004822.1:c.90051C>T (TTN) | XP_016860311.1:p.Leu30017= | |
| XM_017004823.1:c.71667C>T (TTN) | XP_016860312.1:p.Leu23889= | |
| XM_024453094.1:c.93162C>T (TTN) | XP_024308862.1:p.Leu31054= | |
| XM_024453095.1:c.93159C>T (TTN) | XP_024308863.1:p.Leu31053= | |
| XM_024453096.1:c.92592C>T (TTN) | XP_024308864.1:p.Leu30864= | |
| XM_024453097.1:c.89934C>T (TTN) | XP_024308865.1:p.Leu29978= | |
| XM_024453098.1:c.89853C>T (TTN) | XP_024308866.1:p.Leu29951= | |
| XM_024453099.1:c.71616C>T (TTN) | XP_024308867.1:p.Leu23872= | |
| XM_024453100.1:c.61470C>T (TTN) | XP_024308868.1:p.Leu20490= |