Linked Data
ClinVar Variation Id:
467550
dbSNP Id:
rs781128731
ExAC:
2:179427827 C / T
gnomAD v2:
2-179427827-C-T
gnomAD v4:
2-178563100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563100C>T , CM000664.2:g.178563100C>T | GRCh38 |
| NC_000002.11:g.179427827C>T , CM000664.1:g.179427827C>T | GRCh37 |
| NC_000002.10:g.179136073C>T | NCBI36 |
| NG_011618.3:g.272703G>A , LRG_391:g.272703G>A | |
| NG_051363.1:g.45274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75328G>A (TTN) | ENSP00000343764.6:p.Asp25110Asn | |
| ENST00000342175.11:c.56413G>A (TTN) | ENSP00000340554.6:p.Asp18805Asn | |
| ENST00000359218.10:c.56212G>A (TTN) | ENSP00000352154.5:p.Asp18738Asn | |
| ENST00000342175.10:c.56413G>A (TTN) | ENSP00000340554.6:p.Asp18805Asn | |
| ENST00000342992.10:c.75328G>A (TTN) | ENSP00000343764.6:p.Asp25110Asn | |
| ENST00000359218.9:c.56212G>A (TTN) | ENSP00000352154.5:p.Asp18738Asn | |
| ENST00000460472.6:c.55837G>A (TTN) | ENSP00000434586.1:p.Asp18613Asn | |
| ENST00000589042.5:c.83032G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp27678Asn | |
| ENST00000591111.5:c.78109G>A (TTN) | ENSP00000465570.1:p.Asp26037Asn | |
| ENST00000615779.4:c.78109G>A (TTN) | ENSP00000483597.1:p.Asp26037Asn | |
| NM_001256850.1:c.78109G>A (TTN) | NP_001243779.1:p.Asp26037Asn | |
| NM_001267550.2:c.83032G>A (TTN) MANE Select | NP_001254479.2:p.Asp27678Asn | |
| NM_003319.4:c.55837G>A (TTN) | NP_003310.4:p.Asp18613Asn | |
| NM_133378.4:c.75328G>A (TTN) | NP_596869.4:p.Asp25110Asn | |
| NM_133432.3:c.56212G>A (TTN) | NP_597676.3:p.Asp18738Asn | |
| NM_133437.4:c.56413G>A (TTN) | NP_597681.4:p.Asp18805Asn | |
| NR_038271.1:n.447-8200C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19472C>T (TTN-AS1) | ||
| XM_011511729.1:c.82129G>A (TTN) | XP_011510031.1:p.Asp27377Asn | |
| XM_011511730.1:c.56023G>A (TTN) | XP_011510032.1:p.Asp18675Asn | |
| XM_011511731.1:c.55882G>A (TTN) | XP_011510033.1:p.Asp18628Asn | |
| XM_017004819.1:c.81925G>A (TTN) | XP_016860308.1:p.Asp27309Asn | |
| XM_017004820.1:c.77323G>A (TTN) | XP_016860309.1:p.Asp25775Asn | |
| XM_017004821.1:c.77320G>A (TTN) | XP_016860310.1:p.Asp25774Asn | |
| XM_017004822.1:c.74362G>A (TTN) | XP_016860311.1:p.Asp24788Asn | |
| XM_017004823.1:c.55978G>A (TTN) | XP_016860312.1:p.Asp18660Asn | |
| XM_024453094.1:c.77473G>A (TTN) | XP_024308862.1:p.Asp25825Asn | |
| XM_024453095.1:c.77470G>A (TTN) | XP_024308863.1:p.Asp25824Asn | |
| XM_024453096.1:c.76903G>A (TTN) | XP_024308864.1:p.Asp25635Asn | |
| XM_024453097.1:c.74245G>A (TTN) | XP_024308865.1:p.Asp24749Asn | |
| XM_024453098.1:c.74164G>A (TTN) | XP_024308866.1:p.Asp24722Asn | |
| XM_024453099.1:c.55927G>A (TTN) | XP_024308867.1:p.Asp18643Asn | |
| XM_024453100.1:c.45781G>A (TTN) | XP_024308868.1:p.Asp15261Asn |