Linked Data
ClinVar Variation Id:
378826
dbSNP Id:
rs72648230
ExAC:
2:179422218 G / T
gnomAD v2:
2-179422218-G-T
gnomAD v3:
2-178557491-G-T
gnomAD v4:
2-178557491-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557491G>T , CM000664.2:g.178557491G>T | GRCh38 |
| NC_000002.11:g.179422218G>T , CM000664.1:g.179422218G>T | GRCh37 |
| NC_000002.10:g.179130464G>T | NCBI36 |
| NG_011618.3:g.278312C>A , LRG_391:g.278312C>A | |
| NG_051363.1:g.39665G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80067C>A (TTN) | ENSP00000343764.6:p.Gly26689= | |
| ENST00000342175.11:c.61152C>A (TTN) | ENSP00000340554.6:p.Gly20384= | |
| ENST00000359218.10:c.60951C>A (TTN) | ENSP00000352154.5:p.Gly20317= | |
| ENST00000342175.10:c.61152C>A (TTN) | ENSP00000340554.6:p.Gly20384= | |
| ENST00000342992.10:c.80067C>A (TTN) | ENSP00000343764.6:p.Gly26689= | |
| ENST00000359218.9:c.60951C>A (TTN) | ENSP00000352154.5:p.Gly20317= | |
| ENST00000460472.6:c.60576C>A (TTN) | ENSP00000434586.1:p.Gly20192= | |
| ENST00000589042.5:c.87771C>A (TTN) MANE Select | ENSP00000467141.1:p.Gly29257= | |
| ENST00000591111.5:c.82848C>A (TTN) | ENSP00000465570.1:p.Gly27616= | |
| ENST00000615779.4:c.82848C>A (TTN) | ENSP00000483597.1:p.Gly27616= | |
| NM_001256850.1:c.82848C>A (TTN) | NP_001243779.1:p.Gly27616= | |
| NM_001267550.2:c.87771C>A (TTN) MANE Select | NP_001254479.2:p.Gly29257= | |
| NM_003319.4:c.60576C>A (TTN) | NP_003310.4:p.Gly20192= | |
| NM_133378.4:c.80067C>A (TTN) | NP_596869.4:p.Gly26689= | |
| NM_133432.3:c.60951C>A (TTN) | NP_597676.3:p.Gly20317= | |
| NM_133437.4:c.61152C>A (TTN) | NP_597681.4:p.Gly20384= | |
| NR_038271.1:n.447-13809G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15130G>T (TTN-AS1) | ||
| XM_011511729.1:c.86868C>A (TTN) | XP_011510031.1:p.Gly28956= | |
| XM_011511730.1:c.60762C>A (TTN) | XP_011510032.1:p.Gly20254= | |
| XM_011511731.1:c.60621C>A (TTN) | XP_011510033.1:p.Gly20207= | |
| XM_017004819.1:c.86664C>A (TTN) | XP_016860308.1:p.Gly28888= | |
| XM_017004820.1:c.82062C>A (TTN) | XP_016860309.1:p.Gly27354= | |
| XM_017004821.1:c.82059C>A (TTN) | XP_016860310.1:p.Gly27353= | |
| XM_017004822.1:c.79101C>A (TTN) | XP_016860311.1:p.Gly26367= | |
| XM_017004823.1:c.60717C>A (TTN) | XP_016860312.1:p.Gly20239= | |
| XM_024453094.1:c.82212C>A (TTN) | XP_024308862.1:p.Gly27404= | |
| XM_024453095.1:c.82209C>A (TTN) | XP_024308863.1:p.Gly27403= | |
| XM_024453096.1:c.81642C>A (TTN) | XP_024308864.1:p.Gly27214= | |
| XM_024453097.1:c.78984C>A (TTN) | XP_024308865.1:p.Gly26328= | |
| XM_024453098.1:c.78903C>A (TTN) | XP_024308866.1:p.Gly26301= | |
| XM_024453099.1:c.60666C>A (TTN) | XP_024308867.1:p.Gly20222= | |
| XM_024453100.1:c.50520C>A (TTN) | XP_024308868.1:p.Gly16840= |